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rs121907994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907994(C;T)
Make rs121907994(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51950116
GeneATP7B
is asnp
is mentioned by
dbSNPrs121907994
ebirs121907994
HLIrs121907994
Exacrs121907994
Varsomers121907994
Maprs121907994
PheGenIrs121907994
hapmaprs121907994
1000 genomesrs121907994
hgdprs121907994
ensemblrs121907994
gopubmedrs121907994
geneviewrs121907994
scholarrs121907994
googlers121907994
pharmgkbrs121907994
gwascentralrs121907994
openSNPrs121907994
23andMers121907994
23andMe allrs121907994
SNP Nexus

SNPshotrs121907994
SNPdbers121907994
MSV3drs121907994
GWAS Ctlgrs121907994
Max Magnitude0
OMIM606882
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121907994(T;T)
Alt rs121907994(T;T)
Reference rs121907994(C;C)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52524252G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004055.3,