Chemical: Drug
anastrozole

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.


Annotated Labels

  1. FDA Label for anastrozole and ESR1,ESR2,PGR
  2. HCSC Label for anastrozole and ESR1,ESR2,PGR

last updated 12/16/2013

1. FDA Label for anastrozole and ESR1,ESR2,PGR

Genetic testing required

Summary

Anastrozole (ARIMIDEX) is an aromatase inhibitor indicated for use in postmenopausal women as an adjuvant treatment for hormone receptor-positive early breast cancer, as a first-line treatment for hormone receptor-positive or hormone receptor unknown locally advanced or metastatic breast cancer, or to treat advanced breast cancer with disease progression following tamoxifen therapy.

Annotation

Excerpts from the anastrozole (ARIMIDEX) drug label:

ARIMIDEX is indicated for adjuvant treatment of postmenopausal women with hormone receptor-positive early breast cancer.

ARIMIDEX is indicated for the first-line treatment of postmenopausal women with hormone receptor-positive or hormone receptor unknown locally advanced or metastatic breast cancer.

ARIMIDEX is indicated for the treatment of advanced breast cancer in postmenopausal women with disease progression following tamoxifen therapy. Patients with ER-negative disease and patients who did not respond to previous tamoxifen therapy rarely respond to ARIMIDEX.

For the complete drug label text with sections containing pharmacogenetic information highlighted, see the anastrozole drug label.

*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.

Full label available at DailyMed

Genes and/or phenotypes found in this label

  • Breast Neoplasms
    • Indications & usage section, Contraindications section, Adverse reactions section
    • source: PHONT
  • Neoplasms
    • Indications & usage section, Contraindications section, Warnings section, Adverse reactions section
    • source: PHONT
  • CYP1A2
    • metabolism/PK, Pharmacokinetics section
    • source: U.S. Food and Drug Administration
  • CYP2C8
    • metabolism/PK, Pharmacokinetics section
    • source: U.S. Food and Drug Administration
  • CYP2C9
    • metabolism/PK, Pharmacokinetics section
    • source: U.S. Food and Drug Administration
  • CYP3A4
    • metabolism/PK, Pharmacokinetics section
    • source: U.S. Food and Drug Administration

last updated 06/08/2015

2. HCSC Label for anastrozole and ESR1,ESR2,PGR

Genetic testing required

Summary

The product monograph for anastrozole states that it is indicated for treatment of postmenopausal women with hormone receptor positive advanced breast cancer.

Annotation

Excerpt from the anastrozole product monograph:

Because of its pharmacological action, patients with estrogen and/or progesterone receptor-positive disease are the most appropriate population for MYLAN-ANASTROZOLE therapy.

MYLAN-ANASTROZOLE is used for the treatment of postmenopausal women with hormone receptor positive breast cancer in the following conditions: advanced breast cancer.

For the complete product monograph text with sections containing pharmacogenetic information highlighted, see the anastrozole product monograph.

*Disclaimer: The contents of this page have not been endorsed by the HCSC and are the sole responsibility of PharmGKB.


PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the page.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Links in the "Gene" column lead to PharmGKB Gene Pages.

List of all variant annotations for anastrozole

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs10148269 NC_000014.8:g.64736924A>G, NC_000014.9:g.64270206A>G, NG_011535.1:g.73345T>C, NM_001040275.1:c.536-1295T>C, NM_001214902.1:c.536-1295T>C, NM_001214903.1:c.536-1295T>C, NM_001271876.1:c.536-1295T>C, NM_001271877.1:c.536-1295T>C, NM_001291712.1:c.536-1295T>C, NM_001291723.1:c.536-1295T>C, NM_001437.2:c.536-1295T>C, NR_073496.1:n.1279-1295T>C, NR_073497.1:n.453-1295T>C, NR_073505.1:n.1279-1295T>C, XM_011536545.1:c.536-1295T>C, XM_011536546.1:c.536-1295T>C, rs61327453
A > G
SNP
No VIP available CA VA
rs10485828 NC_000020.10:g.57600655G>C, NC_000020.11:g.59025600G>C, NG_023424.2:g.11347G>C, NM_030773.3:c.*817G>C
G > C
SNP
No VIP available No Clinical Annotations available VA
rs10967942 NC_000009.11:g.2754177G>A, NC_000009.12:g.2754177G>A
G > A
SNP
No VIP available No Clinical Annotations available VA
rs11224556 NC_000011.10:g.101028882A>G, NC_000011.9:g.100899613A>G, NG_016475.1:g.105932T>C
A > G
SNP
No VIP available No Clinical Annotations available VA
rs112830684 NC_000003.11:g.57347725C>T, NC_000003.12:g.57313697C>T, NM_001291661.1:c.10674+797G>A, NM_178504.4:c.8058+797G>A, XM_011533466.1:c.10662+797G>A, XM_011533467.1:c.10629+797G>A, XM_011533468.1:c.10599+797G>A, XM_011533469.1:c.10521+797G>A, XM_011533470.1:c.9162+797G>A, XM_011533473.1:c.4887+797G>A
C > T
SNP
No VIP available No Clinical Annotations available VA
rs1152580 NC_000014.8:g.64694994T>G, NC_000014.9:g.64228276T>G, NG_011535.1:g.115275A>C, NG_011756.1:g.380312T>G, NM_001040275.1:c.1407-662A>C, NM_001214902.1:c.1407-347A>C, NM_001271876.1:c.1407-231A>C, NM_001291712.1:c.1407-662A>C, NM_001291723.1:c.1407-662A>C, NR_073496.1:n.2011-662A>C, NR_073505.1:n.2150-662A>C, XM_011536545.1:c.1406+6694A>C, rs17225899
T > G
SNP
No VIP available No Clinical Annotations available VA
rs11573856 NC_000008.10:g.119954995C>T, NC_000008.11:g.118942756C>T, NG_012202.1:g.14389G>A, NM_002546.3:c.30+9036G>A, rs386519919, rs60792989
C > T
SNP
No VIP available No Clinical Annotations available VA
rs11664594 NC_000018.10:g.62350973A>T, NC_000018.9:g.60018206A>T, NG_008098.1:g.30659A>T, NM_001270949.1:c.283+1036A>T, NM_001270950.1:c.283+1036A>T, NM_001270951.1:c.283+1036A>T, NM_001278268.1:c.283+1036A>T, NM_003839.2:c.283+1036A>T, NM_003839.3:c.283+1036A>T, XM_005266777.1:c.283+1036A>T, XM_011526244.1:c.283+1036A>T, XM_011526245.1:c.165+1036A>T, XR_935263.1:n.298+1036A>T, rs60439771
A > T
SNP
No VIP available No Clinical Annotations available VA
rs117996576 NC_000008.10:g.15334892A>G, NC_000008.11:g.15477383A>G
A > G
SNP
No VIP available No Clinical Annotations available VA
rs11877530 NC_000018.10:g.62348702G>A, NC_000018.9:g.60015935G>A, NG_008098.1:g.28388G>A, NM_001270949.1:c.157+453G>A, NM_001270950.1:c.157+453G>A, NM_001270951.1:c.157+453G>A, NM_001278268.1:c.157+453G>A, NM_003839.2:c.157+453G>A, NM_003839.3:c.157+453G>A, XM_005266777.1:c.157+453G>A, XM_011526244.1:c.157+453G>A, XM_011526245.1:c.39+453G>A, XR_935263.1:n.172+453G>A, rs386440553, rs60739673
G > A
SNP
No VIP available No Clinical Annotations available VA
rs12248467 NC_000010.10:g.53930538G>A, NC_000010.11:g.52170778G>A, NG_029982.1:g.1184628G>A, NM_001098512.2:c.1031+8815G>A, NM_006258.3:c.1076+8815G>A, XM_005269970.1:c.1076+8815G>A, XM_005269971.1:c.791+8815G>A, XM_005269972.1:c.227+8815G>A, XM_005269972.3:c.227+8815G>A, XM_011539952.1:c.1076+8815G>A
G > A
SNP
No VIP available No Clinical Annotations available VA
rs12435857 NC_000014.8:g.64723525G>A, NC_000014.9:g.64256807G>A, NG_011535.1:g.86744C>T, NM_001040275.1:c.1091+419C>T, NM_001214902.1:c.1091+419C>T, NM_001214903.1:c.1091+419C>T, NM_001271876.1:c.1091+419C>T, NM_001271877.1:c.952+3642C>T, NM_001291712.1:c.1091+419C>T, NM_001291723.1:c.1091+419C>T, NM_001437.2:c.1091+419C>T, NR_073496.1:n.1695+3642C>T, NR_073497.1:n.1059+419C>T, NR_073505.1:n.1834+419C>T, XM_011536545.1:c.1091+419C>T, XM_011536546.1:c.1091+419C>T, rs58049166
G > A
SNP
No VIP available No Clinical Annotations available VA
rs12455775 NC_000018.10:g.62352617T>G, NC_000018.9:g.60019850T>G, NG_008098.1:g.32303T>G, NM_001270949.1:c.284-1774T>G, NM_001270950.1:c.284-1774T>G, NM_001270951.1:c.284-1774T>G, NM_001278268.1:c.284-1774T>G, NM_003839.2:c.284-1774T>G, NM_003839.3:c.284-1774T>G, XM_005266777.1:c.284-1774T>G, XM_011526244.1:c.284-1774T>G, XM_011526245.1:c.166-1774T>G, XR_935263.1:n.299-1774T>G, rs12966359, rs60836673
T > G
SNP
No VIP available No Clinical Annotations available VA
rs12457042 NC_000018.10:g.62326220T>A, NC_000018.9:g.59993453T>A, NG_008098.1:g.5906T>A, NM_001270949.1:c.75+793T>A, NM_001270950.1:c.75+793T>A, NM_001270951.1:c.75+793T>A, NM_001278268.1:c.75+793T>A, NM_003839.2:c.75+793T>A, NM_003839.3:c.75+793T>A, XM_005266777.1:c.75+793T>A, XM_011526244.1:c.75+793T>A, XM_011526245.1:c.-118+793T>A, XR_935263.1:n.90+793T>A, rs56970683
T > A
SNP
No VIP available No Clinical Annotations available VA
rs1256031 NC_000014.8:g.64746179G>A, NC_000014.9:g.64279461G>A, NG_011535.1:g.64090C>T, NM_001040275.1:c.535+520C>T, NM_001214902.1:c.535+520C>T, NM_001214903.1:c.535+520C>T, NM_001271876.1:c.535+520C>T, NM_001271877.1:c.535+520C>T, NM_001291712.1:c.535+520C>T, NM_001291723.1:c.535+520C>T, NM_001437.2:c.535+520C>T, NR_073496.1:n.1278+520C>T, NR_073497.1:n.452+3163C>T, NR_073505.1:n.1278+520C>T, XM_011536545.1:c.535+520C>T, XM_011536546.1:c.535+520C>T, rs17179712, rs386524921, rs61056083, rs61491502
G > A
SNP
No VIP available No Clinical Annotations available VA
rs1256061 NC_000014.8:g.64703593G>T, NC_000014.9:g.64236875G>T, NG_011535.1:g.106676C>A, NM_001040275.1:c.1226-1725C>A, NM_001214902.1:c.1226-1725C>A, NM_001214903.1:c.1226-1725C>A, NM_001271876.1:c.1226-1725C>A, NM_001271877.1:c.953-1725C>A, NM_001291712.1:c.1226-1725C>A, NM_001291723.1:c.1226-1725C>A, NM_001437.2:c.1226-1725C>A, NR_073496.1:n.1830-1725C>A, NR_073497.1:n.1194-1725C>A, NR_073505.1:n.1969-1725C>A, XM_011536545.1:c.1226-1725C>A, XM_011536546.1:c.1226-1725C>A, rs17179537, rs52828228, rs60634364
G > T
SNP
No VIP available No Clinical Annotations available VA
rs1256064 NC_000014.8:g.64700739A>G, NC_000014.9:g.64234021A>G, NG_011535.1:g.109530T>C, NM_001040275.1:c.1406+949T>C, NM_001214902.1:c.1406+949T>C, NM_001271876.1:c.1406+949T>C, NM_001271877.1:c.1134-698T>C, NM_001291712.1:c.1406+949T>C, NM_001291723.1:c.1406+949T>C, NM_001437.2:c.1407-698T>C, NR_073496.1:n.2010+949T>C, NR_073497.1:n.1375-698T>C, NR_073505.1:n.2149+949T>C, XM_011536545.1:c.1406+949T>C, XM_011536546.1:c.1407-698T>C, rs386524927, rs61545073
A > G
SNP
No VIP available No Clinical Annotations available VA
rs1256120 NC_000014.8:g.64805001A>G, NC_000014.9:g.64338283A>G, NG_011535.1:g.5268T>C, NM_001291712.1:c.-1461T>C, NM_001291723.1:c.-476T>C, NR_073496.1:n.268T>C, NR_073505.1:n.268T>C, XM_011536546.1:c.-1792T>C, rs117363295, rs1742152, rs60272954
A > -
A > G
SNP
No VIP available No Clinical Annotations available VA
rs12956925 NC_000018.10:g.62346407G>A, NC_000018.9:g.60013640G>A, NG_008098.1:g.26093G>A, NM_001270949.1:c.76-1761G>A, NM_001270950.1:c.76-1761G>A, NM_001270951.1:c.76-1761G>A, NM_001278268.1:c.76-1761G>A, NM_003839.2:c.76-1761G>A, NM_003839.3:c.76-1761G>A, XM_005266777.1:c.76-1761G>A, XM_011526244.1:c.76-1761G>A, XM_011526245.1:c.-43-1761G>A, XR_935263.1:n.91-1761G>A, rs61486972
G > A
SNP
No VIP available No Clinical Annotations available VA
rs12969154 NC_000018.10:g.62338910G>A, NC_000018.9:g.60006143G>A, NG_008098.1:g.18596G>A, NM_001270949.1:c.76-9258G>A, NM_001270950.1:c.76-9258G>A, NM_001270951.1:c.76-9258G>A, NM_001278268.1:c.76-9258G>A, NM_003839.2:c.76-9258G>A, NM_003839.3:c.76-9258G>A, XM_005266777.1:c.76-9258G>A, XM_011526244.1:c.76-9258G>A, XM_011526245.1:c.-44+2523G>A, XR_935263.1:n.91-9258G>A, rs61170109
G > A
SNP
No VIP available No Clinical Annotations available VA
rs1485286 NC_000008.10:g.119950668C>T, NC_000008.11:g.118938429C>T, NG_012202.1:g.18716G>A, NM_002546.3:c.31-5129G>A, rs17757648, rs59129018
C > T
SNP
No VIP available No Clinical Annotations available VA
rs1485288 NC_000008.10:g.119950788T>C, NC_000008.11:g.118938549T>C, NG_012202.1:g.18596A>G, NM_002546.3:c.31-5249A>G, rs11573881
T > C
SNP
No VIP available No Clinical Annotations available VA
rs17015762 NC_000003.11:g.78056794C>T, NC_000003.12:g.78007643C>T, XR_940977.1:n.215+15158G>A, XR_940978.1:n.215+15158G>A, XR_940979.1:n.215+15158G>A
C > T
SNP
No VIP available No Clinical Annotations available VA
rs17179740 NC_000014.8:g.64756751G>A, NC_000014.9:g.64290033G>A, NG_011535.1:g.53518C>T, NM_001040275.1:c.-91+4000C>T, NM_001291712.1:c.-90-6958C>T, NM_001291723.1:c.-90-6958C>T, NM_001437.2:c.-91+4000C>T, NR_073496.1:n.654-6958C>T, NR_073505.1:n.654-6958C>T, XM_011536545.1:c.-91+4000C>T, XM_011536546.1:c.-90-6958C>T, rs58763396
G > A
SNP
No VIP available No Clinical Annotations available VA
rs1801132 NC_000006.11:g.152265522G>C, NC_000006.12:g.151944387G>C, NG_008493.1:g.258892C=, NG_008493.1:g.258892C>G, NM_000125.3:c.975C=, NM_000125.3:c.975C>G, NM_001122740.1:c.975C=, NM_001122740.1:c.975C>G, NM_001122741.1:c.975C=, NM_001122741.1:c.975C>G, NM_001122742.1:c.975C=, NM_001122742.1:c.975C>G, NM_001291230.1:c.981C=, NM_001291230.1:c.981C>G, NM_001291241.1:c.972C=, NM_001291241.1:c.972C>G, NP_000116.2:p.Pro325=, NP_001116212.1:p.Pro325=, NP_001116213.1:p.Pro325=, NP_001116214.1:p.Pro325=, NP_001278159.1:p.Pro327=, NP_001278170.1:p.Pro324=, XM_005266856.1:c.981G>C, XM_005266857.1:c.972G>C, XM_006715374.2:c.975G>C, XM_006715375.2:c.456G>C, XM_011535543.1:c.975G>C, XM_011535544.1:c.975G>C, XM_011535545.1:c.975G>C, XM_011535546.1:c.975G>C, XM_011535547.1:c.975G>C, XM_011535548.1:c.456G>C, XM_011535549.1:c.246G>C, XP_005266913.1:p.Pro327=, XP_005266914.1:p.Pro324=, XP_006715437.1:p.Pro325=, XP_006715438.1:p.Pro152=, XP_011533845.1:p.Pro325=, XP_011533846.1:p.Pro325=, XP_011533847.1:p.Pro325=, XP_011533848.1:p.Pro325=, XP_011533849.1:p.Pro325=, XP_011533850.1:p.Pro152=, XP_011533851.1:p.Pro82=, rs17847079, rs56646123, rs57015982
G > G
SNP
P325P
No VIP available No Clinical Annotations available VA
rs1952586 NC_000014.8:g.64759419T>C, NC_000014.9:g.64292701T>C, NG_011535.1:g.50850A>G, NM_001040275.1:c.-91+1332A>G, NM_001291712.1:c.-91+4832A>G, NM_001291723.1:c.-90-9626A>G, NM_001437.2:c.-91+1332A>G, NR_073496.1:n.654-9626A>G, NR_073505.1:n.654-9626A>G, XM_011536545.1:c.-91+1332A>G, XM_011536546.1:c.-91+8667A>G, rs386550251, rs57804327
T > C
SNP
No VIP available No Clinical Annotations available VA
rs2011425 NC_000002.11:g.234627608T>G, NC_000002.12:g.233718962T>G, NG_002601.2:g.134219T>G, NM_001072.3:c.861+25097T>G, NM_007120.2:c.142T>G, NM_019075.2:c.856-48072T>G, NM_019076.4:c.856-48072T>G, NM_019077.2:c.855+36170T>G, NM_019078.1:c.867+5104T>G, NM_021027.2:c.855+46173T>G, NM_205862.1:c.60+25097T>G, NP_009051.1:p.Leu48Val, XR_241238.1:n.198T>G, XR_241240.1:n.1022+25097T>G, XR_241241.1:n.941+46173T>G, rs16849670, rs17866635, rs58554624
T > G
SNP
L48V
No VIP available CA VA
rs2073618 NC_000008.10:g.119964052G>C, NC_000008.11:g.118951813G>C, NG_012202.1:g.5332C>G, NM_002546.3:c.9C>G, NP_002537.3:p.Asn3Lys, XM_005250756.1:c.-625G>C, XM_005250756.2:c.-625G>C, rs17751701, rs60810341
G > C
SNP
N3K
No VIP available No Clinical Annotations available VA
rs2077647 NC_000006.11:g.152129077T>C, NC_000006.12:g.151807942T>C, NG_008493.1:g.122447T>C, NM_000125.3:c.30T>C, NM_001122740.1:c.30T>C, NM_001122741.1:c.30T>C, NM_001122742.1:c.30T>C, NM_001291230.1:c.30T>C, NM_001291241.1:c.30T>C, NP_000116.2:p.Ser10=, NP_001116212.1:p.Ser10=, NP_001116213.1:p.Ser10=, NP_001116214.1:p.Ser10=, NP_001278159.1:p.Ser10=, NP_001278170.1:p.Ser10=, XM_005266856.1:c.30T>C, XM_005266857.1:c.30T>C, XM_006715374.2:c.30T>C, XM_006715375.2:c.-1397T>C, XM_011535543.1:c.30T>C, XM_011535544.1:c.30T>C, XM_011535545.1:c.30T>C, XM_011535546.1:c.30T>C, XM_011535547.1:c.30T>C, XM_011535548.1:c.-458T>C, XP_005266913.1:p.Ser10=, XP_005266914.1:p.Ser10=, XP_006715437.1:p.Ser10=, XP_011533845.1:p.Ser10=, XP_011533846.1:p.Ser10=, XP_011533847.1:p.Ser10=, XP_011533848.1:p.Ser10=, XP_011533849.1:p.Ser10=, rs17847075, rs386556657, rs58961143
T > C
SNP
S10S
No VIP available No Clinical Annotations available VA
rs2228480 NC_000006.11:g.152420095G>A, NC_000006.12:g.152098960G>A, NG_008493.1:g.413465G>A, NM_000125.3:c.1782G>A, NM_001122740.1:c.1782G>A, NM_001122741.1:c.1782G>A, NM_001122742.1:c.1782G>A, NM_001291230.1:c.1788G>A, NM_001291241.1:c.1779G>A, NP_000116.2:p.Thr594=, NP_001116212.1:p.Thr594=, NP_001116213.1:p.Thr594=, NP_001116214.1:p.Thr594=, NP_001278159.1:p.Thr596=, NP_001278170.1:p.Thr593=, XM_005266856.1:c.1788G>A, XM_005266857.1:c.1779G>A, XM_006715374.2:c.*197G>A, XM_006715375.2:c.1263G>A, XM_011535543.1:c.1782G>A, XM_011535544.1:c.1782G>A, XM_011535545.1:c.1782G>A, XM_011535546.1:c.1782G>A, XM_011535548.1:c.1263G>A, XM_011535549.1:c.1053G>A, XP_005266913.1:p.Thr596=, XP_005266914.1:p.Thr593=, XP_006715438.1:p.Thr421=, XP_011533845.1:p.Thr594=, XP_011533846.1:p.Thr594=, XP_011533847.1:p.Thr594=, XP_011533848.1:p.Thr594=, XP_011533850.1:p.Thr421=, XP_011533851.1:p.Thr351=, rs17847080, rs3734364, rs59762488
G > A
SNP
T594T
No VIP available CA VA
rs2234693 NC_000006.11:g.152163335T>C, NC_000006.12:g.151842200T>C, NG_008493.1:g.156705T>C, NM_000125.3:c.453-397T>C, NM_001122740.1:c.453-397T>C, NM_001122741.1:c.453-397T>C, NM_001122742.1:c.453-397T>C, NM_001291230.1:c.453-397T>C, NM_001291241.1:c.453-397T>C, XM_005266856.1:c.453-397T>C, XM_005266857.1:c.453-397T>C, XM_006715374.2:c.453-397T>C, XM_006715375.2:c.-67-397T>C, XM_011535543.1:c.453-397T>C, XM_011535544.1:c.453-397T>C, XM_011535545.1:c.453-397T>C, XM_011535546.1:c.453-397T>C, XM_011535547.1:c.453-397T>C, XM_011535548.1:c.-67-397T>C, rs4134641, rs60769286
T > C
SNP
No VIP available No Clinical Annotations available VA
rs2277438 NC_000013.10:g.43155168G>A, NC_000013.11:g.42581032G>A, NG_008990.1:g.23297G>A, NM_003701.3:c.220-94G>A, NM_033012.3:c.1-94G>A, XM_011535280.1:c.1-94G>A, rs59207645
G > A
G > C
SNP
No VIP available No Clinical Annotations available VA
rs3020314 NC_000006.11:g.152270672C>T, NC_000006.12:g.151949537C>T, NG_008493.1:g.264042C>T, NM_000125.3:c.1096+5029C>T, NM_001122740.1:c.1096+5029C>T, NM_001122741.1:c.1096+5029C>T, NM_001122742.1:c.1096+5029C>T, NM_001291230.1:c.1102+5029C>T, NM_001291241.1:c.1093+5029C>T, XM_005266856.1:c.1102+5029C>T, XM_005266857.1:c.1093+5029C>T, XM_006715374.2:c.1096+5029C>T, XM_006715375.2:c.577+5029C>T, XM_011535543.1:c.1096+5029C>T, XM_011535544.1:c.1096+5029C>T, XM_011535545.1:c.1096+5029C>T, XM_011535546.1:c.1096+5029C>T, XM_011535547.1:c.1096+5029C>T, XM_011535548.1:c.577+5029C>T, XM_011535549.1:c.367+5029C>T, rs60734605
C > T
SNP
No VIP available No Clinical Annotations available VA
rs3020445 NC_000014.8:g.64788644A>G, NC_000014.9:g.64321926A>G, NG_011535.1:g.21625T>C, NM_001291712.1:c.-768+14487T>C, NM_001291723.1:c.-91+15972T>C, NR_073496.1:n.653+15972T>C, NR_073505.1:n.653+15972T>C, XM_011536546.1:c.-601-12743T>C, rs4899133, rs58948913, rs6573556
A > G
SNP
No VIP available No Clinical Annotations available VA
rs3102724 NC_000008.10:g.119946807G>A, NC_000008.11:g.118934568G>A, NG_012202.1:g.22577C>T, NM_002546.3:c.31-1268C>T, rs56621512, rs58395725
G > A
SNP
No VIP available No Clinical Annotations available VA
rs3102728 NC_000008.10:g.119956305T>C, NC_000008.11:g.118944066T>C, NG_012202.1:g.13079A>G, NM_002546.3:c.30+7726A>G, rs17830846
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3134068 NC_000008.10:g.119962659T>C, NC_000008.11:g.118950420T>C, NG_012202.1:g.6725A>G, NM_002546.3:c.30+1372A>G, XM_005250756.1:c.-2018T>C, XM_005250756.2:c.-2018T>C, rs4876871
T > C
SNP
No VIP available No Clinical Annotations available VA
rs313458 NC_000010.10:g.4717172T>C, NC_000010.11:g.4674980T>C, NR_024475.1:n.22+3069A>G, XR_930595.1:n.1757-1685T>C, XR_930596.1:n.1746-1685T>C, rs17370775
T > C
SNP
No VIP available No Clinical Annotations available VA
rs35112095 NC_000021.8:g.43990033G>A, NC_000021.9:g.42569923G>A, NG_033931.1:g.75292G>A, NM_018964.3:c.1423+1485G>A, XM_005261139.1:c.1423+1485G>A, XM_005261140.1:c.1423+1485G>A, XM_005261141.1:c.1423+1485G>A, XM_005261142.1:c.1024+1485G>A, XM_011529614.1:c.1516+1485G>A, XM_011529615.1:c.1516+1485G>A
G > A
SNP
No VIP available CA VA
rs3732218 NC_000002.11:g.234627304G>A, NC_000002.12:g.233718658G>A, NG_002601.2:g.133915G>A, NM_001072.3:c.861+24793G>A, NM_007120.2:c.-163G>A, NM_019075.2:c.856-48376G>A, NM_019076.4:c.856-48376G>A, NM_019077.2:c.855+35866G>A, NM_019078.1:c.867+4800G>A, NM_021027.2:c.855+45869G>A, NM_205862.1:c.60+24793G>A, XR_241238.1:n.-107G>A, XR_241240.1:n.1022+24793G>A, XR_241241.1:n.941+45869G>A, rs58808341, rs61384933
G > A
SNP
No VIP available CA VA
rs3732219 NC_000002.11:g.234627248C>T, NC_000002.12:g.233718602C>T, NG_002601.2:g.133859C>T, NM_001072.3:c.861+24737C>T, NM_007120.2:c.-219C>T, NM_019075.2:c.856-48432C>T, NM_019076.4:c.856-48432C>T, NM_019077.2:c.855+35810C>T, NM_019078.1:c.867+4744C>T, NM_021027.2:c.855+45813C>T, NM_205862.1:c.60+24737C>T, XR_241238.1:n.-163C>T, XR_241240.1:n.1022+24737C>T, XR_241241.1:n.941+45813C>T, rs60036812
C > T
SNP
No VIP available No Clinical Annotations available VA
rs3740751 NC_000011.10:g.101030868G>A, NC_000011.9:g.100901599G>A, NG_016475.1:g.103946C>T, NM_000926.4:c.*8248C>T, NM_001202474.3:c.*8248C>T, NM_001271161.2:c.*8248C>T, NM_001271162.1:c.*8248C>T, NR_073141.2:n.10991C>T, NR_073142.2:n.10874C>T, NR_073143.2:n.10606C>T
G > -
G > A
SNP
No VIP available No Clinical Annotations available VA
rs3798577 NC_000006.11:g.152421130T>C, NC_000006.12:g.152099995T>C, NG_008493.1:g.414500T>C, NM_000125.3:c.*1029T>C, NM_001122740.1:c.*1029T>C, NM_001122741.1:c.*1029T>C, NM_001122742.1:c.*1029T>C, NM_001291230.1:c.*1029T>C, NM_001291241.1:c.*1029T>C, XM_006715374.2:c.*1232T>C, XM_006715375.2:c.*1029T>C, XM_011535543.1:c.*1029T>C, XM_011535544.1:c.*1029T>C, XM_011535545.1:c.*1029T>C, XM_011535546.1:c.*1029T>C, XM_011535548.1:c.*1029T>C, XM_011535549.1:c.*1029T>C, rs17303147, rs17847081, rs61649397
T > C
SNP
No VIP available No Clinical Annotations available VA
rs430363 NC_000023.10:g.43838978G>T, NC_000023.11:g.43979732G>T
G > T
SNP
No VIP available No Clinical Annotations available VA
rs4369774 NC_000018.10:g.62343215A>C, NC_000018.9:g.60010448A>C, NG_008098.1:g.22901A>C, NM_001270949.1:c.76-4953A>C, NM_001270950.1:c.76-4953A>C, NM_001270951.1:c.76-4953A>C, NM_001278268.1:c.76-4953A>C, NM_003839.2:c.76-4953A>C, NM_003839.3:c.76-4953A>C, XM_005266777.1:c.76-4953A>C, XM_011526244.1:c.76-4953A>C, XM_011526245.1:c.-43-4953A>C, XR_935263.1:n.91-4953A>C, rs58602560
A > C
SNP
No VIP available CA VA
rs4550690 NC_000002.11:g.102422994T>C, NC_000002.12:g.101806532T>C, NM_001242559.1:c.180+15756T>C, NM_001242560.1:c.180+15756T>C, NM_004834.4:c.180+15756T>C, NM_145686.3:c.180+15756T>C, NM_145687.3:c.180+15756T>C, XM_005264044.1:c.180+15756T>C, XM_005264044.3:c.180+15756T>C, XM_005264045.1:c.180+15756T>C, XM_005264045.3:c.180+15756T>C, XM_005264046.1:c.180+15756T>C, XM_005264046.3:c.180+15756T>C, XM_005264047.1:c.180+15756T>C, XM_005264047.3:c.180+15756T>C, XM_005264048.1:c.180+15756T>C, XM_005264048.2:c.180+15756T>C, XM_005264049.1:c.180+15756T>C, XM_005264049.3:c.180+15756T>C, XM_005264050.1:c.180+15756T>C, XM_005264050.3:c.180+15756T>C, XM_005264051.1:c.180+15756T>C, XM_005264052.1:c.180+15756T>C, XM_005264052.3:c.180+15756T>C, XM_005264053.1:c.180+15756T>C, XM_005264053.3:c.180+15756T>C, XM_005264054.1:c.180+15756T>C, XM_005264054.3:c.180+15756T>C, XM_005264055.1:c.180+15756T>C, XM_005264055.2:c.180+15756T>C, XM_005264056.1:c.180+15756T>C, XM_005264056.2:c.180+15756T>C, XM_005264057.1:c.180+15756T>C, XM_005264057.3:c.180+15756T>C, XM_005264058.1:c.180+15756T>C, XM_005264058.3:c.180+15756T>C, XM_005264059.1:c.180+15756T>C, XM_005264059.3:c.180+15756T>C, XM_005264060.1:c.180+15756T>C, XM_005264060.3:c.180+15756T>C, XM_005264061.1:c.120+9149T>C, XM_005264062.1:c.180+15756T>C, XM_005264062.3:c.180+15756T>C, XM_005264063.1:c.180+15756T>C, XM_005264063.3:c.180+15756T>C, XM_005264064.1:c.180+15756T>C, XM_005264064.3:c.180+15756T>C, XM_005264065.1:c.180+15756T>C, XM_005264065.3:c.180+15756T>C, XM_005264066.1:c.180+15756T>C, XM_005264066.3:c.180+15756T>C, XM_005264067.1:c.180+15756T>C, XM_005264068.1:c.180+15756T>C, XM_005264068.3:c.180+15756T>C, XM_005264069.1:c.180+15756T>C, XM_005264069.2:c.180+15756T>C, XM_005264070.1:c.180+15756T>C, XM_005264071.1:c.180+15756T>C, XM_005264071.2:c.180+15756T>C, XM_005264072.1:c.180+15756T>C, XM_006712865.2:c.180+15756T>C, XM_006712866.2:c.120+9149T>C, XM_006712867.2:c.180+15756T>C, XM_006712868.2:c.180+15756T>C, XM_006712869.2:c.180+15756T>C, XM_011512201.1:c.159+9149T>C, XM_011512202.1:c.180+15756T>C, XM_011512203.1:c.180+15756T>C, XM_011512204.1:c.159+9149T>C, XM_011512205.1:c.180+15756T>C
T > C
SNP
No VIP available CA VA
rs4646 NC_000015.10:g.51210647A>C, NC_000015.9:g.51502844A>C, NG_007982.1:g.132952T>G, NM_000103.3:c.*161T>G, NM_031226.2:c.*161T>G, XM_005254190.1:c.*161T>G, XM_005254191.1:c.*161T>G, XM_005254192.1:c.*161T>G, XR_932222.1:n.99-67336A>C, rs16964193, rs3191019, rs58335330
A > C
SNP
No VIP available No Clinical Annotations available VA
rs471767 NC_000011.10:g.101034566G>A, NC_000011.9:g.100905297G>A, NG_016475.1:g.100248C>T, NM_000926.4:c.*4550C>T, NM_001202474.3:c.*4550C>T, NM_001271161.2:c.*4550C>T, NM_001271162.1:c.*4550C>T, NR_073141.2:n.7293C>T, NR_073142.2:n.7176C>T, NR_073143.2:n.6908C>T, rs57733164
G > -
G > A
SNP
No VIP available No Clinical Annotations available VA
rs4941129 NC_000018.10:g.62333244T>C, NC_000018.9:g.60000477T>C, NG_008098.1:g.12930T>C, NM_001270949.1:c.75+7817T>C, NM_001270950.1:c.75+7817T>C, NM_001270951.1:c.75+7817T>C, NM_001278268.1:c.75+7817T>C, NM_003839.2:c.75+7817T>C, NM_003839.3:c.75+7817T>C, XM_005266777.1:c.75+7817T>C, XM_011526244.1:c.75+7817T>C, XM_011526245.1:c.-117-3070T>C, XR_935263.1:n.90+7817T>C, rs386596598, rs60306098
T > C
SNP
No VIP available No Clinical Annotations available VA
rs4941131 NC_000018.10:g.62372928T>C, NC_000018.9:g.60040161T>C, NG_008098.1:g.52614T>C, NM_001270949.1:c.783+6168T>C, NM_001270950.1:c.730+11135T>C, NM_001270951.1:c.617-11823T>C, NM_001278268.1:c.1525+3444T>C, NM_003839.2:c.1567+3444T>C, NM_003839.3:c.1567+3444T>C, XM_005266777.1:c.1567+3444T>C, XM_011526244.1:c.1582+3444T>C, XM_011526245.1:c.1459+3444T>C, XR_935263.1:n.1597+3444T>C, rs59933656
T > C
SNP
No VIP available No Clinical Annotations available VA
rs4986938 NC_000014.8:g.64699816C>T, NC_000014.9:g.64233098C>T, NG_011535.1:g.110453G>A, NM_001040275.1:c.1406+1872G>A, NM_001214902.1:c.1406+1872G>A, NM_001271876.1:c.1406+1872G>A, NM_001271877.1:c.*39G>A, NM_001291712.1:c.1406+1872G>A, NM_001291723.1:c.1406+1872G>A, NM_001437.2:c.*39G>A, NR_073496.1:n.2010+1872G>A, NR_073497.1:n.1600G>A, NR_073505.1:n.2149+1872G>A, XM_011536545.1:c.1406+1872G>A, XM_011536546.1:c.*39G>A, rs17766687, rs386597008
C > -
C > T
SNP
No VIP available No Clinical Annotations available VA
rs537681 NC_000011.10:g.101117303C>T, NC_000011.9:g.100988034C>T, NG_016475.1:g.17511G>A, NM_000926.4:c.1789+8704G>A, NM_001202474.3:c.1297+8704G>A, NM_001271161.2:c.1297+8704G>A, NM_001271162.1:c.7+8704G>A, NR_073141.2:n.1782+8704G>A, NR_073142.2:n.1782+8704G>A, NR_073143.2:n.1782+8704G>A, XM_006718858.2:c.1789+8704G>A, XM_011542869.1:c.*2969G>A, XR_947831.1:n.3361+8704G>A, rs52792782, rs61506996, rs74240269
C > T
SNP
No VIP available No Clinical Annotations available VA
rs555653 NC_000011.10:g.101098814A>G, NC_000011.9:g.100969545A>G, NG_016475.1:g.36000T>C, NM_000926.4:c.1790-6938T>C, NM_001202474.3:c.1298-6938T>C, NM_001271161.2:c.1298-6938T>C, NM_001271162.1:c.8-6938T>C, NR_073141.2:n.1783-6938T>C, NR_073142.2:n.1782+27193T>C, NR_073143.2:n.1783-6938T>C, XM_006718858.2:c.1790-6938T>C, XR_947831.1:n.3362-6938T>C, rs17730503, rs57032290
A > G
SNP
No VIP available No Clinical Annotations available VA
rs561610 NC_000011.10:g.101032263T>C, NC_000011.9:g.100902994T>C, NG_016475.1:g.102551A>G, NM_000926.4:c.*6853A>G, NM_001202474.3:c.*6853A>G, NM_001271161.2:c.*6853A>G, NM_001271162.1:c.*6853A>G, NR_073141.2:n.9596A>G, NR_073142.2:n.9479A>G, NR_073143.2:n.9211A>G, rs386599201, rs56501380, rs57645907
T > -
T > C
SNP
No VIP available No Clinical Annotations available VA
rs572943 NC_000011.10:g.101084887G>A, NC_000011.9:g.100955618G>A, NG_016475.1:g.49927C>T, NM_000926.4:c.1906+6873C>T, NM_001202474.3:c.1414+6873C>T, NM_001271161.2:c.1414+6873C>T, NM_001271162.1:c.124+6873C>T, NR_073141.2:n.1899+6873C>T, NR_073142.2:n.1783-22135C>T, NR_073143.2:n.1899+6873C>T, XM_006718858.2:c.1906+6873C>T, XR_947831.1:n.3478+6873C>T, rs1310193, rs1310207, rs1310330, rs1310337
G > A
SNP
No VIP available No Clinical Annotations available VA
rs61399156 NC_000007.13:g.111672301A>T, NC_000007.14:g.112032246A>T, NG_028060.1:g.179162T>A, NM_014705.3:c.38-28115T>A, XM_005250724.1:c.38-28115T>A, XM_006716188.1:c.38-28115T>A, XM_006716189.1:c.38-28115T>A, XM_011516716.1:c.38-28115T>A, XM_011516717.1:c.38-28115T>A
A > T
SNP
No VIP available CA VA
rs6493497 NC_000015.10:g.51338638G>A, NC_000015.9:g.51630835G>A, NG_007982.1:g.4961C>T, NM_000103.3:c.-182C>T, NM_031226.2:c.-291C>T, rs56448991, rs57935430
G > A
SNP
No VIP available No Clinical Annotations available VA
rs6567270 NC_000018.10:g.62359772T>A, NC_000018.9:g.60027005T>A, NG_008098.1:g.39458T>A, NM_001270949.1:c.522-183T>A, NM_001270950.1:c.522-183T>A, NM_001270951.1:c.522-183T>A, NM_001278268.1:c.480-183T>A, NM_003839.2:c.522-183T>A, NM_003839.3:c.522-183T>A, XM_005266777.1:c.522-183T>A, XM_011526244.1:c.537-183T>A, XM_011526245.1:c.414-183T>A, XR_935263.1:n.552-183T>A, rs61387383
T > A
SNP
No VIP available No Clinical Annotations available VA
rs6567276 NC_000018.10:g.62377435T>C, NC_000018.9:g.60044668T>C, NG_008098.1:g.57121T>C, NM_001270949.1:c.784-7316T>C, NM_001270950.1:c.731-7316T>C, NM_001270951.1:c.617-7316T>C, NM_001278268.1:c.1526-7316T>C, NM_003839.2:c.1568-7316T>C, NM_003839.3:c.1568-7316T>C, XM_005266777.1:c.1568-1822T>C, XM_011526244.1:c.1583-7316T>C, XM_011526245.1:c.1460-7316T>C, XR_935263.1:n.1598-1822T>C, rs202107806, rs76406755
T > C
SNP
No VIP available No Clinical Annotations available VA
rs6591876 NC_000011.10:g.80177902T>C, NC_000011.9:g.79888946T>C
T > C
SNP
No VIP available No Clinical Annotations available VA
rs66520040 NC_000013.10:g.28606231G>A, NC_000013.11:g.28032094G>A, NG_007066.1:g.73475C>T, NM_004119.2:c.1942+1793C>T, NR_130706.1:n.2024+1793C>T, XM_005266318.1:c.1942+1793C>T, XM_005266319.1:c.1942+1793C>T, XM_011535015.1:c.1885+1793C>T, XM_011535016.1:c.1417+1793C>T, XM_011535017.1:c.1417+1793C>T, XM_011535018.1:c.1417+1793C>T
G > A
SNP
No VIP available No Clinical Annotations available VA
rs6755571 NC_000002.11:g.234627536C>A, NC_000002.12:g.233718890C>A, NG_002601.2:g.134147C>A, NM_001072.3:c.861+25025C>A, NM_007120.2:c.70C>A, NM_019075.2:c.856-48144C>A, NM_019076.4:c.856-48144C>A, NM_019077.2:c.855+36098C>A, NM_019078.1:c.867+5032C>A, NM_021027.2:c.855+46101C>A, NM_205862.1:c.60+25025C>A, NP_009051.1:p.Pro24Thr, XR_241238.1:n.126C>A, XR_241240.1:n.1022+25025C>A, XR_241241.1:n.941+46101C>A, rs17864908, rs52805064, rs58561863
C > A
SNP
P24T
No VIP available No Clinical Annotations available VA
rs6842571 NC_000004.11:g.81072664G>A, NC_000004.12:g.80151510G>A, rs57678248
G > A
SNP
No VIP available CA VA
rs6901146 NC_000006.11:g.52445381T>C, NC_000006.12:g.52580583T>C, NR_103446.1:n.1427+974T>C, NR_103447.1:n.933+974T>C, rs60184696
T > C
SNP
No VIP available No Clinical Annotations available VA
rs7176005 NC_000015.10:g.51339082C>T, NC_000015.9:g.51631279C>T, NG_007982.1:g.4517G>A, NM_000103.3:c.-626G>A, NM_031226.2:c.-735G>A, rs57385418
C > T
SNP
No VIP available No Clinical Annotations available VA
rs7237982 NC_000018.10:g.62337020A>G, NC_000018.9:g.60004253A>G, NG_008098.1:g.16706A>G, NM_001270949.1:c.76-11148A>G, NM_001270950.1:c.76-11148A>G, NM_001270951.1:c.76-11148A>G, NM_001278268.1:c.76-11148A>G, NM_003839.2:c.76-11148A>G, NM_003839.3:c.76-11148A>G, XM_005266777.1:c.76-11148A>G, XM_011526244.1:c.76-11148A>G, XM_011526245.1:c.-44+633A>G, XR_935263.1:n.91-11148A>G, rs60068405
A > C
A > G
SNP
No VIP available No Clinical Annotations available VA
rs7239621 NC_000018.10:g.77217539C>T, NC_000018.9:g.74929495C>T, rs57861657
C > T
SNP
No VIP available No Clinical Annotations available VA
rs7239667 NC_000018.10:g.62362005G>C, NC_000018.9:g.60029238G>C, NG_008098.1:g.41691G>C, NM_001270949.1:c.730+212G>C, NM_001270950.1:c.730+212G>C, NM_001270951.1:c.616+1956G>C, NM_001278268.1:c.688+212G>C, NM_003839.2:c.730+212G>C, NM_003839.3:c.730+212G>C, XM_005266777.1:c.730+212G>C, XM_011526244.1:c.745+212G>C, XM_011526245.1:c.622+212G>C, XR_935263.1:n.760+212G>C
G > C
SNP
No VIP available No Clinical Annotations available VA
rs73511817 NC_000009.11:g.111146025C>A, NC_000009.12:g.108383745C>A, XR_930239.1:n.66-8149G>T
C > A
SNP
No VIP available No Clinical Annotations available VA
rs73728712 NC_000007.13:g.137240413G>A, NC_000007.14:g.137555667G>A, NM_004717.2:c.1948-3099C>T, XM_005250688.1:c.1048-3099C>T, XM_006716172.2:c.1792-3099C>T, XM_006716174.2:c.385-3099C>T, XM_011516677.1:c.1777-3099C>T, XM_011516678.1:c.1792-3099C>T, XM_011516679.1:c.1792-3099C>T, XM_011516680.1:c.1363-3099C>T, XM_011516681.1:c.1351-3099C>T, XM_011516682.1:c.1948-3099C>T, XM_011516683.1:c.919-3099C>T, XM_011516684.1:c.886-3099C>T
G > A
SNP
No VIP available No Clinical Annotations available VA
rs76996285 NC_000013.10:g.25644108G>T, NC_000013.11:g.25069970G>T
G > T
SNP
No VIP available CA VA
rs7984870 NC_000013.10:g.43146482G>C, NC_000013.11:g.42572346G>C, NG_008990.1:g.14611G>C, NM_003701.3:c.-1958G>C, NM_033012.3:c.-1+608G>C, rs17458239, rs57905389
G > C
SNP
No VIP available No Clinical Annotations available VA
rs7999876 NC_000013.10:g.86592824G>A, NC_000013.11:g.86018689G>A
G > A
SNP
No VIP available No Clinical Annotations available VA
rs8017441 NC_000014.8:g.64715794A>G, NC_000014.9:g.64249076A>G, NG_011535.1:g.94475T>C, NM_001040275.1:c.1225+470T>C, NM_001214902.1:c.1225+470T>C, NM_001214903.1:c.1225+470T>C, NM_001271876.1:c.1225+470T>C, NM_001271877.1:c.952+11373T>C, NM_001291712.1:c.1225+470T>C, NM_001291723.1:c.1225+470T>C, NM_001437.2:c.1225+470T>C, NR_073496.1:n.1829+470T>C, NR_073497.1:n.1193+470T>C, NR_073505.1:n.1968+470T>C, XM_011536545.1:c.1225+470T>C, XM_011536546.1:c.1225+470T>C, rs52802016, rs60923277
A > G
SNP
No VIP available No Clinical Annotations available VA
rs8092654 NC_000018.10:g.3956145C>T, NC_000018.9:g.3956145C>T, NM_001242761.1:c.-73+48971G>A, NM_004746.3:c.-73+48971G>A, XM_005258171.1:c.-73+48971G>A, XM_005258172.1:c.-73+48971G>A, XM_011525770.1:c.-73+48971G>A, XM_011525771.1:c.-73+48971G>A, XR_935073.1:n.499+48971G>A
C > T
SNP
No VIP available CA VA
rs9340799 NC_000006.11:g.152163381A>G, NC_000006.12:g.151842246A>G, NG_008493.1:g.156751A>G, NM_000125.3:c.453-351A>G, NM_001122740.1:c.453-351A>G, NM_001122741.1:c.453-351A>G, NM_001122742.1:c.453-351A>G, NM_001291230.1:c.453-351A>G, NM_001291241.1:c.453-351A>G, XM_005266856.1:c.453-351A>G, XM_005266857.1:c.453-351A>G, XM_006715374.2:c.453-351A>G, XM_006715375.2:c.-67-351A>G, XM_011535543.1:c.453-351A>G, XM_011535544.1:c.453-351A>G, XM_011535545.1:c.453-351A>G, XM_011535546.1:c.453-351A>G, XM_011535547.1:c.453-351A>G, XM_011535548.1:c.-67-351A>G, rs17208058, rs59875577
A > G
SNP
No VIP available No Clinical Annotations available VA
rs944459 NC_000014.8:g.64699358C>T, NC_000014.9:g.64232640C>T, NG_011535.1:g.110911G>A, NM_001040275.1:c.1406+2330G>A, NM_001214902.1:c.1406+2330G>A, NM_001271876.1:c.1406+2330G>A, NM_001271877.1:c.*497G>A, NM_001291712.1:c.1406+2330G>A, NM_001291723.1:c.1406+2330G>A, NM_001437.2:c.*497G>A, NR_073496.1:n.2010+2330G>A, NR_073497.1:n.2058G>A, NR_073505.1:n.2149+2330G>A, XM_011536545.1:c.1406+2330G>A, XM_011536546.1:c.*497G>A, rs17225913, rs60195561
C > T
SNP
No VIP available No Clinical Annotations available VA
rs9533166 NC_000013.10:g.43177169T>C, NC_000013.11:g.42603033T>C, NG_008990.1:g.45298T>C, NM_003701.3:c.532+2052T>C, NM_033012.3:c.313+2052T>C, XM_011535280.1:c.313+2052T>C, rs61447705
T > C
SNP
No VIP available No Clinical Annotations available VA
rs9566990 NC_000013.10:g.43164710C>G, NC_000013.11:g.42590574C>G, NG_008990.1:g.32839C>G, NM_003701.3:c.387+9281C>G, NM_033012.3:c.168+9281C>G, XM_011535280.1:c.168+9281C>G, rs17536433, rs57715463
C > G
SNP
No VIP available No Clinical Annotations available VA
rs9594782 NC_000013.10:g.43151186T>C, NC_000013.11:g.42577050T>C, NG_008990.1:g.19315T>C, NM_003701.3:c.219+2528T>C, NM_033012.3:c.1-4076T>C, XM_011535280.1:c.-1+2046T>C
T > C
SNP
No VIP available No Clinical Annotations available VA
rs9646629 NC_000018.10:g.62383966C>G, NC_000018.9:g.60051199C>G, NG_008098.1:g.63652C>G, NM_001270949.1:c.784-785C>G, NM_001270950.1:c.731-785C>G, NM_001270951.1:c.617-785C>G, NM_001278268.1:c.1526-785C>G, NM_003839.2:c.1568-785C>G, NM_003839.3:c.1568-785C>G, XM_011526244.1:c.1583-785C>G, XM_011526245.1:c.1460-785C>G, XR_935263.1:n.1746-785C>G, rs61518736
C > G
SNP
No VIP available No Clinical Annotations available VA
rs9878448 NC_000003.11:g.30987740C>T, NC_000003.12:g.30946248C>T, rs56563006
C > T
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Generic Names
  • Anastrozol
  • anastrozole
Trade Names
  • Anastrole
  • Arimidex
Brand Mixture Names

PharmGKB Accession Id

PA448432

Type(s):

Drug

Description

Anastrozole is a drug indicated in the treatment of breast cancer in post-menopausal women. It is used both in adjuvant therapy (i.e. following surgery) and in metastatic breast cancer. It decreases the amount of estrogens that the body makes. Anastrozole belongs in the class of drugs known as aromatase inhibitors. It inhibits the enzyme aromatase, which is responsible for converting androgens (produced by women in the adrenal glands) to estrogens.

Source: Drug Bank

Indication

For adjuvant treatment of hormone receptor positive breast cancer , as well as hormonal treatment of advanced breast cancer in post-menopausal women. Has also been used to treat pubertal gynecomastia and McCune-Albright syndrome; however, manufacturer states that efficacy for these indications have not been established.

Source: Drug Bank

Other Vocabularies

Information pulled from DrugBank has not been reviewed by PharmGKB.

Pharmacology, Interactions, and Contraindications

Mechanism of Action

Anastrozole selectively inhibits aromatase. The principal source of circulating estrogen (primarily estradiol) is conversion of adrenally-generated androstenedione to estrone by aromatase in peripheral tissues. Therefore, aromatase inhibition leads to a decrease in serum and tumor concentration of estrogen, leading to a decreased tumor mass or delayed progression of tumor growth in some women. Anastrozole has no detectable effect on synthesis of adrenal corticosteroids, aldosterone, and thyroid hormone.

Source: Drug Bank

Pharmacology

Anastrozole is a potent and selective non-steroidal aromatase inhibitor indicated for the treatment of advanced breast cancer in post-menopausal women with disease progression following tamoxifen therapy. Many breast cancers have estrogen receptors and growth of these tumors can be stimulated by estrogens. In post-menopausal women, the principal source of circulating estrogen (primarily estradiol) is conversion of adrenally-generated androstenedione to estrone by aromatase in peripheral tissues, such as adipose tissue, with further conversion of estrone to estradiol. Many breast cancers also contain aromatase; the importance of tumor-generated estrogens is uncertain. Treatment of breast cancer has included efforts to decrease estrogen levels by ovariectomy premenopausally and by use of anti-estrogens and progestational agents both pre- and post-menopausally, and these interventions lead to decreased tumor mass or delayed progression of tumor growth in some women. Anastrozole is a potent and selective non-steroidal aromatase inhibitor. It significantly lowers serum estradiol concentrations and has no detectable effect on formation of adrenal corticosteroids or aldosterone.

Source: Drug Bank

Food Interaction

Food decreases the rate of absorption, but the extent of absorption is not affected.

Source: Drug Bank

Absorption, Distribution, Metabolism, Elimination & Toxicity

Biotransformation

Hepatic. Metabolized mainly by N-dealkylation, hydroxylation, and glucuronidation to inactive metabolites. Primary metabolite is an inactive triazole.

Source: Drug Bank

Protein Binding

40%

Source: Drug Bank

Absorption

Rapidly absorbed into the systemic cirulation following oral administration. Peak plasma concentrations are usually attained within 2 hours under fasting conditions, with steady-state plasma concentrations attained in approximately 7 days.

Source: Drug Bank

Half-Life

50 hours

Source: Drug Bank

Toxicity

In rats, lethality is greater than 100 mg/kg.

Source: Drug Bank

Route of Elimination

Hepatic metabolism accounts for approximately 85% of anastrozole elimination. Renal elimination accounts for approximately 10% of total clearance.

Source: Drug Bank

Chemical Properties

Chemical Formula

C17H19N5

Source: Drug Bank

Isomeric SMILES

CC(C)(C#N)c1cc(cc(c1)C(C)(C)C#N)Cn2cncn2

Source: OpenEye

Canonical SMILES

CC(C)(C#N)C1=CC(=CC(CN2C=NC=N2)=C1)C(C)(C)C#N

Source: Drug Bank

Average Molecular Weight

293.3663

Source: Drug Bank

Monoisotopic Molecular Weight

293.164045633

Source: Drug Bank

SMILES

CC(C)(C#N)C1=CC(=CC(CN2C=NC=N2)=C1)C(C)(C)C#N

Source: Drug Bank

InChI String

InChI=1S/C17H19N5/c1-16(2,9-18)14-5-13(8-22-12-20-11-21-22)6-15(7-14)17(3,4)10-19/h5-7,11-12H,8H2,1-4H3

Source: Drug Bank

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics
    Summary of pathways of estrogens and antiestrogens.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this drug. To report a pathway, click here.

Genes that are associated with this drug in PharmGKB's database based on (1) variant annotations, (2) literature review, (3) pathways or (4) information automatically retrieved from DrugBank, depending on the "evidence" and "source" listed below.

Curated Information ?

Drug Targets

Gene Description
CYP19A1 (source: Drug Bank)

Curated Information ?

EvidenceDrug
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
fulvestrant

Curated Information ?

Relationships from National Drug File - Reference Terminology (NDF-RT)

May Treat
Contraindicated With

Publications related to anastrozole: 19

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Fulvestrant decreases anastrozole drug concentrations when taken concurrently by patients with metastatic breast cancer treated on SWOG study S0226. British journal of clinical pharmacology. 2016. Hertz Daniel L, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
S4646 polymorphism in CYP19A1 gene is associated with the efficacy of hormone therapy in early breast cancer. International journal of clinical and experimental pathology. 2015. Shao Xiying, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
RANKL and OPG Polymorphisms Are Associated with Aromatase Inhibitor-Related Musculoskeletal Adverse Events in Chinese Han Breast Cancer Patients. PloS one. 2015. Wang Jingxuan, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
The CYP19 RS4646 Polymorphism IS Related to the Prognosis of Stage I-II and Operable Stage III Breast Cancer. PloS one. 2015. Shao Xiying, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The influence of genetic polymorphisms on the efficacy and side effects of anastrozole in postmenopausal breast cancer patients. Pharmacogenetics and genomics. 2014. Abubakar Murtala B, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Aromatase Inhibitor-Associated Bone Fractures: A Case-Cohort GWAS and Functional Genomics. Molecular endocrinology (Baltimore, Md.). 2014. Liu Mohan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic Factors Affecting Gene Transcription and Catalytic Activity of UDP-Glucuronosyltransferases in Human Liver. Human molecular genetics. 2014. Liu Wanqing, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Challenges in pharmacogenetics. European journal of clinical pharmacology. 2013. Cascorbi Ingolf, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mammographic breast density response to aromatase inhibition. Clinical cancer research : an official journal of the American Association for Cancer Research. 2013. Vachon Celine M, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Characterization of Anastrozole Glucuronidation: Potential Role of UGT1A4 Promoter Snps in Anastrozole Pharmacogenomics. Drug metabolism and disposition: the biological fate of chemicals. 2013. Edavana Vineetha Koroth, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Indications of clinical and genetic predictors for aromatase inhibitors related musculoskeletal adverse events in Chinese Han women with breast cancer. PloS one. 2013. Wang Jingxuan, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2010. Ingle James N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Nationwide drug-dispensing data reveal important differences in adherence to drug label recommendations on CYP2D6-dependent drug interactions. British journal of clinical pharmacology. 2010. Mannheimer Buster, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Variation in anastrozole metabolism and pharmacodynamics in women with early breast cancer. Cancer research. 2010. Ingle James N, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Functional genetic polymorphisms in the aromatase gene CYP19 vary the response of breast cancer patients to neoadjuvant therapy with aromatase inhibitors. Cancer research. 2010. Wang Liewei, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Evolving novel anti-HER2 strategies. The lancet oncology. 2009. Jones Kellie L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Antiestrogen pathway (aromatase inhibitor). Pharmacogenetics and genomics. 2009. Desta Zeruesenay, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Effect of anastrozole and tamoxifen as adjuvant treatment for early-stage breast cancer: 100-month analysis of the ATAC trial. The lancet oncology. 2008. Arimidex, Tamoxifen, Alone or in Combination (ATAC) Trialists' Group, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacokinetics of anastrozole and tamoxifen alone, and in combination, during adjuvant endocrine therapy for early breast cancer in postmenopausal women: a sub-protocol of the 'Arimidex and tamoxifen alone or in combination' (ATAC) trial. British journal of cancer. 2001. Dowsett M, et al. PubMed

LinkOuts

Web Resource:
Wikipedia
National Drug Code Directory:
0310-0201-30
DrugBank:
DB01217
ChEBI:
2704
KEGG Compound:
C08159
KEGG Drug:
D00960
PubChem Compound:
2187
PubChem Substance:
196979
46504987
Drugs Product Database (DPD):
2224135
BindingDB:
10015
ChemSpider:
2102
Therapeutic Targets Database:
DAP000627
FDA Drug Label at DailyMed:
11628cdc-4e3c-4063-ee9f-c51e2386a820

Clinical Trials

These are trials that mention anastrozole and are related to either pharmacogenetics or pharmacogenomics.

No trials found.

Common Searches

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Sources for PharmGKB drug information: DrugBank, PubChem.