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rs137853282

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853282(A;A)
Make rs137853282(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51958329
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853282
ebirs137853282
HLIrs137853282
Exacrs137853282
Varsomers137853282
Maprs137853282
PheGenIrs137853282
hapmaprs137853282
1000 genomesrs137853282
hgdprs137853282
ensemblrs137853282
gopubmedrs137853282
geneviewrs137853282
scholarrs137853282
googlers137853282
pharmgkbrs137853282
gwascentralrs137853282
openSNPrs137853282
23andMers137853282
23andMe allrs137853282
SNP Nexus

SNPshotrs137853282
SNPdbers137853282
MSV3drs137853282
GWAS Ctlgrs137853282
Max Magnitude0
ClinVar
Risk rs137853282(A;A)
Alt rs137853282(A;A)
Reference rs137853282(G;G)
Significance Untested
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52532465C>T
CLNSRC ClinVar GTR
CLNACC RCV000144369.1,


[PMID 11690702] High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.


[PMID 15202786] Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology.