Variant: VIP

rs7294 in PRSS53,VKORC1

Alleles (on + chromosomal strand)
  1. C > T

Clinical Annotations

PharmGKB clinical annotations provide information about variant-drug pairs based on a summary of the individual variant annotations in the database. Therefore, each clinical annotation could represent information from a single paper or multiple papers. The rating system used to assign "Strength of Evidence" levels is described here. The individual variant annotations, including the PMID for each supporting PubMed publication, can be found on the "PGx Research" tab above.

This information is manually curated by PharmGKB. All alleles are displayed on the positive chromosomal strand.

Variant Annotations

PharmGKB variant annotations provide information about variant-drug pairs or variant-disease pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

List of all variant annotations for this variant.

There are 22 annotations for this variant. Register or sign in to see them.

Variant Overview

PharmGKB Accession ID: PA166154977
Type: SNP
Class: 3' UTR
Clinical Significance: Not reported
Genes: PRSS53, VKORC1

Primary Locus

Name:
[GRCh37]chr16:31102321
Location:
NC_000016.9 31102321 - 31102321
  • C > T
Sequence Type:
genomic
Source:
dbSnp

Alternate Locations

None specified

Variant Frequencies

Population variation data is sourced from HapMap 3.

Alternate Names

  • NC_000016.10:g.31091000C>T
  • NC_000016.9:g.31102321C>T
  • NG_011564.1:g.8956G>A
  • NM_001311311.1:c.*134G>A
  • NM_024006.5:c.*134G>A
  • NM_206824.2:c.*237G>A
  • XM_005255568.1:c.*134G>A
  • XM_011545816.1:c.-2191G>A
  • XM_011545817.1:c.-2191G>A
  • XM_011545818.1:c.-2191G>A
  • XM_011545819.1:c.-2191G>A
  • XM_011545820.1:c.-2191G>A
  • XM_011545943.1:c.*134G>A
  • XM_011545944.1:c.*134G>A
  • XM_011545945.1:c.*237G>A
  • XR_243303.1:n.1175G>A
  • XR_950848.1:n.1414G>A
  • rs17880624
  • rs59098562

VIP Variant in VKORC1

Note: The VKORC1 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations and haplotypes may differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.


G9041A, or 3730 G>A, is a SNP in the 3'UTR of VKORC1, and it may be associated with a higher warfarin dose [Articles:15358623, 16676068]. It is generally not found in the same haplotypes as G3673A or C6484T. Below is a table of the frequency of the A allele at postion 9041 in different populations, and also the number of patients in the study and the PMID number for the study.

PopulationNAllele Frequency of "A"PMID
Japanese938%[Article:17049586]
Swedish3838%[Article:17048007]
Japanese99%[Article:17031720]
Swedish (anticoagulated)3939%[Article:16879214]
Swedish (healthy)3737%[Article:16879214]
Slovenian3636%[Article:16676068]
Caucasian (anticoagulated)3636[Article:16611750]
Florida VA hospital3939%[Article:16580898]
African Americans5252%[Article:16424822]
Caucasians3737%[Article:16424822]
Japanese1717%[Article:16424822]
Germans3838%[Article:16270629]
Swedish3939%[Article:15883587]
Italian3535%[Article:15358623]
Japanese99%[Article:16432637]
Citation VKORC1 pharmacogenomics summary. Pharmacogenetics and genomics. 2010. Owen Ryan P, Gong Li, Sagreiya Hersh, Klein Teri E, Altman Russ B. PubMed
Key Publications:
Drugs / Other Molecules

Appendix

gp positionchr16:31009822(hg18)

Connected Chemicals and Chemical Classes

Evidence Drug

Connected Diseases

Evidence Disease

Related Publications

Evidence Publication