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rs137853281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853281(-;-)
Make rs137853281(-;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position51942396
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853281
ebirs137853281
HLIrs137853281
Exacrs137853281
Varsomers137853281
Maprs137853281
PheGenIrs137853281
hapmaprs137853281
1000 genomesrs137853281
hgdprs137853281
ensemblrs137853281
gopubmedrs137853281
geneviewrs137853281
scholarrs137853281
googlers137853281
pharmgkbrs137853281
gwascentralrs137853281
openSNPrs137853281
23andMers137853281
23andMe allrs137853281
SNP Nexus

SNPshotrs137853281
SNPdbers137853281
MSV3drs137853281
GWAS Ctlgrs137853281
Max Magnitude0
ClinVar
Risk rs137853281(;)
Alt rs137853281(;)
Reference rs137853281(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
CLNACC RCV000169026.2,


[PMID 10994503] [Analysis of mutations and haplotypes of polymorphic markers in patients with Wilson-Konovalov disease from Bashkir].


[PMID 15024742] Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.


[PMID 17897870] Neurological manifestations and ATP7B mutations in Wilson's disease.


[PMID 18855987OA-icon.png] High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.