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rs137853279

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853279(A;A)
Make rs137853279(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51941111
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853279
ebirs137853279
HLIrs137853279
Exacrs137853279
Varsomers137853279
Maprs137853279
PheGenIrs137853279
hapmaprs137853279
1000 genomesrs137853279
hgdprs137853279
ensemblrs137853279
gopubmedrs137853279
geneviewrs137853279
scholarrs137853279
googlers137853279
pharmgkbrs137853279
gwascentralrs137853279
openSNPrs137853279
23andMers137853279
23andMe allrs137853279
SNP Nexus

SNPshotrs137853279
SNPdbers137853279
MSV3drs137853279
GWAS Ctlgrs137853279
Max Magnitude0
OMIM606882
Desc
Variant0021
Relatedalso
ClinVar
Risk rs137853279(A,T;A,T)
Alt rs137853279(A,T;A,T)
Reference rs137853279(G;G)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52515247C>A; NC_000013.10:g.52515247C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144371.1, RCV000004067.2,


[PMID 9887381] His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.


[PMID 15845031] Wilson disease: high prevalence in a mountainous area of Crete.