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rs138925964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 2-4x higher risk for venous thromboembolism (clots)
(T;T) 6 Clotting issues likely in infants
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position93879279
GenePROS1
is asnp
is mentioned by
dbSNPrs138925964
ebirs138925964
HLIrs138925964
Exacrs138925964
Varsomers138925964
Maprs138925964
PheGenIrs138925964
hapmaprs138925964
1000 genomesrs138925964
hgdprs138925964
ensemblrs138925964
gopubmedrs138925964
geneviewrs138925964
scholarrs138925964
googlers138925964
pharmgkbrs138925964
gwascentralrs138925964
openSNPrs138925964
23andMers138925964
23andMe allrs138925964
SNP Nexus

SNPshotrs138925964
SNPdbers138925964
MSV3drs138925964
GWAS Ctlgrs138925964
Max Magnitude6
rs138925964, also known as c.1528G>A, p.Val510Met and V510M, represents a fairly rare mutation in the PROS1 gene on chromosome 3.

Based on exome sequencing, a 2016 report concludes that the rs138925964(T) allele is an African-descent specific risk factor for venous thromboembolism, also known as VTE. Individuals carrying this allele are reported to be at 2 - 4 fold higher VTE risk.10.1002/mgg3.226

A news report about this finding and other ancestry-specific risk factors is here.

ClinVar
Risk rs138925964(G,T;G,T)
Alt rs138925964(G,T;G,T)
Reference rs138925964(C;C)
Significance Other
Disease Protein S deficiency
Variation info
Gene PROS1
CLNDBN Protein S deficiency
Reversed 0
HGVS NC_000003.11:g.93598123C>T
CLNSRC Stanford University
CLNACC RCV000148749.2,