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rs72547528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72547528(C;T)
Make rs72547528(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position31091334
GenePRSS53, VKORC1
is asnp
is mentioned by
dbSNPrs72547528
dbSNP (classic)rs72547528
ClinGenrs72547528
ebirs72547528
HLIrs72547528
Exacrs72547528
Gnomadrs72547528
Varsomers72547528
LitVarrs72547528
Maprs72547528
PheGenIrs72547528
Biobankrs72547528
1000 genomesrs72547528
hgdprs72547528
ensemblrs72547528
geneviewrs72547528
scholarrs72547528
googlers72547528
pharmgkbrs72547528
gwascentralrs72547528
openSNPrs72547528
23andMers72547528
SNPshotrs72547528
SNPdbers72547528
MSV3drs72547528
GWAS Ctlgrs72547528
Max Magnitude0
OMIM608547
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72547528(G;G) rs72547528(T;T)
Alt rs72547528(G;G) rs72547528(T;T)
Reference Rs72547528(C;C)
Significance Pathogenic
Disease Vitamin k-dependent clotting factors
Variation info
Gene VKORC1
CLNDBN Vitamin k-dependent clotting factors, combined deficiency of, 2
Reversed 1
HGVS NC_000016.9:g.31102655G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002290.2,