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rs121918472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918472(C;C)
Make rs121918472(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position93879306
GenePROS1
is asnp
is mentioned by
dbSNPrs121918472
ebirs121918472
HLIrs121918472
Exacrs121918472
Varsomers121918472
Maprs121918472
PheGenIrs121918472
hapmaprs121918472
1000 genomesrs121918472
hgdprs121918472
ensemblrs121918472
gopubmedrs121918472
geneviewrs121918472
scholarrs121918472
googlers121918472
pharmgkbrs121918472
gwascentralrs121918472
openSNPrs121918472
23andMers121918472
23andMe allrs121918472
SNP Nexus

SNPshotrs121918472
SNPdbers121918472
MSV3drs121918472
GWAS Ctlgrs121918472
GMAF0.0009183
Max Magnitude0
OMIM176880
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918472(C,G;C,G)
Alt rs121918472(C,G;C,G)
Reference rs121918472(T;T)
Significance Pathogenic
Disease Protein s heerlen Thrombophilia due to protein S deficiency
Variation info
Gene PROS1
CLNDBN Protein s heerlen Thrombophilia due to protein S deficiency, autosomal recessive
Reversed 1
HGVS NC_000003.11:g.93598150A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014244.17, RCV000205145.2,