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rs137853283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853283(A;A)
Make rs137853283(A;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position51958330
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853283
ebirs137853283
HLIrs137853283
Exacrs137853283
Varsomers137853283
Maprs137853283
PheGenIrs137853283
hapmaprs137853283
1000 genomesrs137853283
hgdprs137853283
ensemblrs137853283
gopubmedrs137853283
geneviewrs137853283
scholarrs137853283
googlers137853283
pharmgkbrs137853283
gwascentralrs137853283
openSNPrs137853283
23andMers137853283
23andMe allrs137853283
SNP Nexus

SNPshotrs137853283
SNPdbers137853283
MSV3drs137853283
GWAS Ctlgrs137853283
Max Magnitude0
ClinVar
Risk rs137853283(A;A)
Alt rs137853283(A;A)
Reference rs137853283(G;G)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52532466C>T
CLNSRC ClinVar GTR
CLNACC RCV000144368.2,


[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.