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rs121907990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121907990(A;G)
Make rs121907990(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51937570
GeneATP7B
is asnp
is mentioned by
dbSNPrs121907990
ebirs121907990
HLIrs121907990
Exacrs121907990
Varsomers121907990
Maprs121907990
PheGenIrs121907990
hapmaprs121907990
1000 genomesrs121907990
hgdprs121907990
ensemblrs121907990
gopubmedrs121907990
geneviewrs121907990
scholarrs121907990
googlers121907990
pharmgkbrs121907990
gwascentralrs121907990
openSNPrs121907990
23andMers121907990
23andMe allrs121907990
SNP Nexus

SNPshotrs121907990
SNPdbers121907990
MSV3drs121907990
GWAS Ctlgrs121907990
Max Magnitude0
OMIM606882
Desc
Variant0003
Relatedalso
OMIM606882
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121907990(G,T;G,T)
Alt rs121907990(G,T;G,T)
Reference rs121907990(A;A)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52511706T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004063.6, RCV000196058.1,