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rs121908000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908000(C;C)
Make rs121908000(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51958543
GeneATP7B
is asnp
is mentioned by
dbSNPrs121908000
ebirs121908000
HLIrs121908000
Exacrs121908000
Varsomers121908000
Maprs121908000
PheGenIrs121908000
hapmaprs121908000
1000 genomesrs121908000
hgdprs121908000
ensemblrs121908000
gopubmedrs121908000
geneviewrs121908000
scholarrs121908000
googlers121908000
pharmgkbrs121908000
gwascentralrs121908000
openSNPrs121908000
23andMers121908000
23andMe allrs121908000
SNP Nexus

SNPshotrs121908000
SNPdbers121908000
MSV3drs121908000
GWAS Ctlgrs121908000
Max Magnitude0
OMIM606882
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121908000(C;C)
Alt rs121908000(C;C)
Reference rs121908000(T;T)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52532679A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004069.3,