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rs137853287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs137853287(-;-)
Make rs137853287(-;C)
Make rs137853287(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position51958367
GeneATP7B
is asnp
is mentioned by
dbSNPrs137853287
ebirs137853287
HLIrs137853287
Exacrs137853287
Varsomers137853287
Maprs137853287
PheGenIrs137853287
hapmaprs137853287
1000 genomesrs137853287
hgdprs137853287
ensemblrs137853287
gopubmedrs137853287
geneviewrs137853287
scholarrs137853287
googlers137853287
pharmgkbrs137853287
gwascentralrs137853287
openSNPrs137853287
23andMers137853287
23andMe allrs137853287
SNP Nexus

SNPshotrs137853287
SNPdbers137853287
MSV3drs137853287
GWAS Ctlgrs137853287
Max Magnitude0
ClinVar
Risk rs137853287(C;C)
Alt rs137853287(C;C)
Reference rs137853287(;)
Significance Untested
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52532503dupG
CLNSRC ClinVar
CLNACC RCV000144366.1,


[PMID 9199563OA-icon.png] Haplotype and mutation analysis in Japanese patients with Wilson disease.


[PMID 9504786] Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations.


[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.


[PMID 19118915] Genotype-phenotype correlation in Italian children with Wilson's disease.