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rs121909676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909676(C;C)
Make rs121909676(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position85551967
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909676
dbSNP (classic)rs121909676
ClinGenrs121909676
ebirs121909676
HLIrs121909676
Exacrs121909676
Gnomadrs121909676
Varsomers121909676
LitVarrs121909676
Maprs121909676
PheGenIrs121909676
Biobankrs121909676
1000 genomesrs121909676
hgdprs121909676
ensemblrs121909676
geneviewrs121909676
scholarrs121909676
googlers121909676
pharmgkbrs121909676
gwascentralrs121909676
openSNPrs121909676
23andMers121909676
SNPshotrs121909676
SNPdbers121909676
MSV3drs121909676
GWAS Ctlgrs121909676
Max Magnitude0
OMIM137167
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909676(A;A) rs121909676(C;C)
Alt rs121909676(A;A) rs121909676(C;C)
Reference Rs121909676(G;G)
Significance Pathogenic
Disease Vitamin k-dependent clotting factors
Variation info
Gene GGCX
CLNDBN Vitamin k-dependent clotting factors, combined deficiency of, 1
Reversed 1
HGVS NC_000002.11:g.85779090C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017581.28,