rs121918472

minus

Geno	Mag	Summary
(C;C)	6	Increased venous thromboembolism risk (> 6x)
(C;T)	5.9	Likely miscall in Ancestry data; otherwise, increased risk (~6x) for venous thromboembolism
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

3

Position

93879306

Gene

PROS1

is a	snp
is	mentioned by
dbSNP	rs121918472
dbSNP (classic)	rs121918472
ClinGen	rs121918472
ebi	rs121918472
HLI	rs121918472
Exac	rs121918472
Gnomad	rs121918472
Varsome	rs121918472
LitVar	rs121918472
Map	rs121918472
PheGenI	rs121918472
Biobank	rs121918472
1000 genomes	rs121918472
hgdp	rs121918472
ensembl	rs121918472
geneview	rs121918472
scholar	rs121918472
google	rs121918472
pharmgkb	rs121918472
gwascentral	rs121918472
openSNP	rs121918472
23andMe	rs121918472
SNPshot	rs121918472
SNPdbe	rs121918472
MSV3d	rs121918472
GWAS Ctlg	rs121918472

GMAF

0.0009183

Max Magnitude

6

aka c.1501T>C (p.Ser501Pro or S501P)

The minor allele of this SNP, rs121918472(C), leads to a Protein S form known as the "Heerlen variant". Present in ~0.5% of healthy blood donors, this variant was considered to be a neutral polymorphism for many years even though it was associated with slightly reduced levels of free Protein S in plasma.

However, more recently, a 2017 study based on 4,000+ VTE patients has reported that heterozygotes for this variant are at significantly increased risk for venous thromboembolism ( (OR 6.6, CI:4.0–10.6, p=1.73x10e-14).[PMID 28374852 ]

OMIM	176880
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs121918472(C;C) rs121918472(G;G)
Alt	Rs121918472(C;C) rs121918472(G;G)
Reference	Rs121918472(T;T)
Significance	Pathogenic
Disease	Protein s heerlen Thrombophilia due to protein S deficiency not specified
Variation	info
Gene	PROS1
CLNDBN	Protein s heerlen Thrombophilia due to protein S deficiency, autosomal recessive not specified
Reversed	1
HGVS	NC_000003.11:g.93598150A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014244.17, RCV000205145.2, RCV000246742.1,