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rs137853280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs137853280(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51965034
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853280
ebirs137853280
HLIrs137853280
Exacrs137853280
Varsomers137853280
Maprs137853280
PheGenIrs137853280
hapmaprs137853280
1000 genomesrs137853280
hgdprs137853280
ensemblrs137853280
gopubmedrs137853280
geneviewrs137853280
scholarrs137853280
googlers137853280
pharmgkbrs137853280
gwascentralrs137853280
openSNPrs137853280
23andMers137853280
23andMe allrs137853280
SNP Nexus

SNPshotrs137853280
SNPdbers137853280
MSV3drs137853280
GWAS Ctlgrs137853280
Max Magnitude0
OMIM606882
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853280(C;C)
Alt rs137853280(C;C)
Reference rs137853280(G;G)
Significance Other
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52539170C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004054.4,


[PMID 7626145] The Wilson disease gene: spectrum of mutations and their consequences.


[PMID 11060541] Severe hepatic Wilson's disease in preschool-aged children.


[PMID 18760268] Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.


[PMID 18841564] [Mutation screening and prenatal diagnosis of Wilson's disease by denature high performance liquid chromatography].