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rs121907998

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907998(G;G)
Make rs121907998(G;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position51961849
GeneATP7B
is asnp
is mentioned by
dbSNPrs121907998
ebirs121907998
HLIrs121907998
Exacrs121907998
Varsomers121907998
Maprs121907998
PheGenIrs121907998
hapmaprs121907998
1000 genomesrs121907998
hgdprs121907998
ensemblrs121907998
gopubmedrs121907998
geneviewrs121907998
scholarrs121907998
googlers121907998
pharmgkbrs121907998
gwascentralrs121907998
openSNPrs121907998
23andMers121907998
23andMe allrs121907998
SNP Nexus

SNPshotrs121907998
SNPdbers121907998
MSV3drs121907998
GWAS Ctlgrs121907998
Max Magnitude0
OMIM606882
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121907998(G;G)
Alt rs121907998(G;G)
Reference rs121907998(T;T)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52535985A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004066.4,


[PMID 1502474] [Dental implants. The contribution of iliac bone grafts].


[PMID 9311736OA-icon.png] Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.


[PMID 9482578] Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.


[PMID 15994426] NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells.


[PMID 16233999] Wilson's Disease.


[PMID 17433323] Late-onset Wilson's disease.