Disease:
Abortion, Spontaneous

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.

Gene ? Variant?
(147) 		Alternate Names ? Chemicals ? Alleles ?
(+ chr strand) 		Function ? Amino Acid?
Translation
No VIP available CA VA CYP1A2 *1A N/A N/A N/A
No VIP available CA VA CYP1A2 *1F N/A N/A N/A
No VIP available No VIP available VA NAT2 *4 N/A N/A N/A
No VIP available No VIP available VA NAT2 *5A N/A N/A N/A
No VIP available No VIP available VA NAT2 *5B N/A N/A N/A
No VIP available No VIP available VA NAT2 *5C N/A N/A N/A
No VIP available No VIP available VA NAT2 *6 N/A N/A N/A
No VIP available No VIP available VA NAT2 *7 N/A N/A N/A
No VIP available No Clinical Annotations available VA
rs1801131 NC_000001.10:g.11854476T>G, NC_000001.11:g.11794419T>G, NG_013351.1:g.16685A>C, NM_005957.4:c.1286A>C, NP_005948.3:p.Glu429Ala, XM_005263458.1:c.1409A>C, XM_005263458.2:c.1409A>C, XM_005263459.1:c.1355A>C, XM_005263460.1:c.1286A>C, XM_005263460.3:c.1286A>C, XM_005263461.1:c.1286A>C, XM_005263461.3:c.1286A>C, XM_005263462.1:c.1286A>C, XM_005263462.3:c.1286A>C, XM_005263463.1:c.1040A>C, XM_005263463.2:c.1040A>C, XM_011541495.1:c.1406A>C, XM_011541496.1:c.1409A>C, XP_005263515.1:p.Glu470Ala, XP_005263516.1:p.Glu452Ala, XP_005263517.1:p.Glu429Ala, XP_005263518.1:p.Glu429Ala, XP_005263519.1:p.Glu429Ala, XP_005263520.1:p.Glu347Ala, XP_011539797.1:p.Glu469Ala, XP_011539798.1:p.Glu470Ala, rs17367365, rs17857426, rs4134712
T > G
 SNP
E429A
No VIP available No Clinical Annotations available VA
rs1801133 NC_000001.10:g.11856378G>A, NC_000001.11:g.11796321G>A, NG_013351.1:g.14783C>T, NM_005957.4:c.665C>T, NP_005948.3:p.Ala222Val, XM_005263458.1:c.788C>T, XM_005263458.2:c.788C>T, XM_005263459.1:c.734C>T, XM_005263460.1:c.665C>T, XM_005263460.3:c.665C>T, XM_005263461.1:c.665C>T, XM_005263461.3:c.665C>T, XM_005263462.1:c.665C>T, XM_005263462.3:c.665C>T, XM_005263463.1:c.419C>T, XM_005263463.2:c.419C>T, XM_011541495.1:c.785C>T, XM_011541496.1:c.788C>T, XP_005263515.1:p.Ala263Val, XP_005263516.1:p.Ala245Val, XP_005263517.1:p.Ala222Val, XP_005263518.1:p.Ala222Val, XP_005263519.1:p.Ala222Val, XP_005263520.1:p.Ala140Val, XP_011539797.1:p.Ala262Val, XP_011539798.1:p.Ala263Val, rs386545618, rs4134713, rs59514310
G > A
 SNP
A222V
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names: 
Synonym
Abortion, Tubal; Abortions, Spontaneous; Abortions, Tubal; Miscarriage; Miscarriage, NOS; Miscarriages; Spontaneous Abortion; Spontaneous Abortions; Spontaneous abortion NOS; Spontaneous abortion unspecified; Tubal Abortion; Tubal Abortions; Unspecified spontaneous abortion NOS
PharmGKB Accession Id: PA443227
External Vocabularies

Curated Information ?

EvidenceGene
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CYP1A2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MTHFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NAT2

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
caffeine
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
folic acid
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
levomefolic acid

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

May Treat
May Prevent
Induces
Contraindicated With
No related diseases are available

Publications related to Abortion, Spontaneous: 6

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Methyltetrahydrofolate vs Folic Acid Supplementation in Idiopathic Recurrent Miscarriage with Respect to Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms: A Randomized Controlled Trial. PloS one. 2015. Hekmatdoost Azita, 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
JAK2 V617F mutation in unexplained loss of first pregnancy. The New England journal of medicine. 2007. Mercier Eric, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Comparisons of CYP1A2 genetic polymorphisms, enzyme activity and the genotype-phenotype relationship in Swedes and Koreans. European journal of clinical pharmacology. 2007. Ghotbi Roza, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Caffeine intake, CYP1A2 polymorphism and the risk of recurrent pregnancy loss. Molecular human reproduction. 2005. Sata Fumihiro, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Caffeine metabolism and the risk of spontaneous abortion of normal karyotype fetuses. Obstetrics and gynecology. 2001. Signorello L B, 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
Rate of caffeine metabolism and risk of spontaneous abortion. American journal of epidemiology. 1998. Fenster L, et al. PubMed