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rs121907997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907997(C;G)
Make rs121907997(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51958369
GeneATP7B
is asnp
is mentioned by
dbSNPrs121907997
ebirs121907997
HLIrs121907997
Exacrs121907997
Varsomers121907997
Maprs121907997
PheGenIrs121907997
hapmaprs121907997
1000 genomesrs121907997
hgdprs121907997
ensemblrs121907997
gopubmedrs121907997
geneviewrs121907997
scholarrs121907997
googlers121907997
pharmgkbrs121907997
gwascentralrs121907997
openSNPrs121907997
23andMers121907997
23andMe allrs121907997
SNP Nexus

SNPshotrs121907997
SNPdbers121907997
MSV3drs121907997
GWAS Ctlgrs121907997
Max Magnitude0
OMIM606882
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121907997(G,T;G,T)
Alt rs121907997(G,T;G,T)
Reference rs121907997(C;C)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52532505G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004065.2,