rs138925964

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

93879279

Gene

PROS1

is a	snp
is	mentioned by
dbSNP	rs138925964
dbSNP (classic)	rs138925964
ClinGen	rs138925964
ebi	rs138925964
HLI	rs138925964
Exac	rs138925964
Gnomad	rs138925964
Varsome	rs138925964
LitVar	rs138925964
Map	rs138925964
PheGenI	rs138925964
Biobank	rs138925964
1000 genomes	rs138925964
hgdp	rs138925964
ensembl	rs138925964
geneview	rs138925964
scholar	rs138925964
google	rs138925964
pharmgkb	rs138925964
gwascentral	rs138925964
openSNP	rs138925964
23andMe	rs138925964
SNPshot	rs138925964
SNPdbe	rs138925964
MSV3d	rs138925964
GWAS Ctlg	rs138925964

Max Magnitude

6

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;G) Rs138925964(T;T)
Alt	rs138925964(G;G) Rs138925964(T;T)
Reference	Rs138925964(C;C)
Significance	Other
Disease	Protein S deficiency Thrombophilia due to protein S deficiency
Variation	info
Gene	PROS1
CLNDBN	Protein S deficiency Thrombophilia due to protein S deficiency, autosomal recessive
Reversed	0
HGVS	NC_000003.11:g.93598123C>T
CLNSRC	Stanford University
CLNACC	RCV000148749.2, RCV000458043.1,