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rs121909675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909675(G;G)
Make rs121909675(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position85553045
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909675
dbSNP (classic)rs121909675
ClinGenrs121909675
ebirs121909675
HLIrs121909675
Exacrs121909675
Gnomadrs121909675
Varsomers121909675
LitVarrs121909675
Maprs121909675
PheGenIrs121909675
Biobankrs121909675
1000 genomesrs121909675
hgdprs121909675
ensemblrs121909675
geneviewrs121909675
scholarrs121909675
googlers121909675
pharmgkbrs121909675
gwascentralrs121909675
openSNPrs121909675
23andMers121909675
SNPshotrs121909675
SNPdbers121909675
MSV3drs121909675
GWAS Ctlgrs121909675
Max Magnitude0
OMIM137167
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909675(G;G)
Alt rs121909675(G;G)
Reference Rs121909675(T;T)
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.85780168A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017578.28,