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rs137853285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853285(A;A)
Make rs137853285(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51958538
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853285
ebirs137853285
HLIrs137853285
Exacrs137853285
Varsomers137853285
Maprs137853285
PheGenIrs137853285
hapmaprs137853285
1000 genomesrs137853285
hgdprs137853285
ensemblrs137853285
gopubmedrs137853285
geneviewrs137853285
scholarrs137853285
googlers137853285
pharmgkbrs137853285
gwascentralrs137853285
openSNPrs137853285
23andMers137853285
23andMe allrs137853285
SNP Nexus

SNPshotrs137853285
SNPdbers137853285
MSV3drs137853285
GWAS Ctlgrs137853285
Max Magnitude0
ClinVar
Risk rs137853285(A;A)
Alt rs137853285(A;A)
Reference rs137853285(G;G)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52532674C>T
CLNSRC ClinVar GTR University of Chicago
CLNACC RCV000144365.2,


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


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