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rs137853284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853284(C;G)
Make rs137853284(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51958334
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853284
ebirs137853284
HLIrs137853284
Exacrs137853284
Varsomers137853284
Maprs137853284
PheGenIrs137853284
hapmaprs137853284
1000 genomesrs137853284
hgdprs137853284
ensemblrs137853284
gopubmedrs137853284
geneviewrs137853284
scholarrs137853284
googlers137853284
pharmgkbrs137853284
gwascentralrs137853284
openSNPrs137853284
23andMers137853284
23andMe allrs137853284
SNP Nexus

SNPshotrs137853284
SNPdbers137853284
MSV3drs137853284
GWAS Ctlgrs137853284
Max Magnitude0
ClinVar
Risk rs137853284(G,T;G,T)
Alt rs137853284(G,T;G,T)
Reference rs137853284(C;C)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52532470G>C
CLNSRC ClinVar
CLNACC RCV000144367.2,


[PMID 14974157] [ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].


[PMID 17160357] Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.