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rs137853286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853286(-;-)
Make rs137853286(-;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position51942398
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853286
ebirs137853286
HLIrs137853286
Exacrs137853286
Varsomers137853286
Maprs137853286
PheGenIrs137853286
hapmaprs137853286
1000 genomesrs137853286
hgdprs137853286
ensemblrs137853286
gopubmedrs137853286
geneviewrs137853286
scholarrs137853286
googlers137853286
pharmgkbrs137853286
gwascentralrs137853286
openSNPrs137853286
23andMers137853286
23andMe allrs137853286
SNP Nexus

SNPshotrs137853286
SNPdbers137853286
MSV3drs137853286
GWAS Ctlgrs137853286
Max Magnitude0
ClinVar
Risk rs137853286(;)
Alt rs137853286(;)
Reference rs137853286(C;C)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52516532delG
CLNSRC ClinVar
CLNACC RCV000169026.2,


[PMID 11857545] Common mutations of ATP7B in Wilson disease patients from Hungary.


[PMID 12955875] Diagnosis and phenotypic classification of Wilson disease.


[PMID 16791614] Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.