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rs121918472

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome3
Position93879306
GenePROS1
is asnp
is mentioned by
dbSNPrs121918472
dbSNP (classic)rs121918472
ClinGenrs121918472
ebirs121918472
HLIrs121918472
Exacrs121918472
Gnomadrs121918472
Varsomers121918472
LitVarrs121918472
Maprs121918472
PheGenIrs121918472
Biobankrs121918472
1000 genomesrs121918472
hgdprs121918472
ensemblrs121918472
geneviewrs121918472
scholarrs121918472
googlers121918472
pharmgkbrs121918472
gwascentralrs121918472
openSNPrs121918472
23andMers121918472
23andMe allrs121918472
SNPshotrs121918472
SNPdbers121918472
MSV3drs121918472
GWAS Ctlgrs121918472
GMAF0.0009183
Max Magnitude6

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 28374852OA-icon.png]

OMIM176880
Desc
Variant0001
Relatedalso
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,