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rs60986317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs60986317(A;A)
Make rs60986317(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51934853
GeneATP7B
is asnp
is mentioned by
dbSNPrs60986317
ebirs60986317
HLIrs60986317
Exacrs60986317
Varsomers60986317
Maprs60986317
PheGenIrs60986317
hapmaprs60986317
1000 genomesrs60986317
hgdprs60986317
ensemblrs60986317
gopubmedrs60986317
geneviewrs60986317
scholarrs60986317
googlers60986317
pharmgkbrs60986317
gwascentralrs60986317
openSNPrs60986317
23andMers60986317
23andMe allrs60986317
SNP Nexus

SNPshotrs60986317
SNPdbers60986317
MSV3drs60986317
GWAS Ctlgrs60986317
GMAF0.001377
Max Magnitude0
ClinVar
Risk rs60986317(A;A)
Alt rs60986317(A;A)
Reference rs60986317(G;G)
Significance Probable-Pathogenic
Disease Wilson's disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson's disease not provided
Reversed 0
HGVS NC_000013.10:g.52508989G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029379.1, RCV000224611.1,



[PMID 10544227OA-icon.png] Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.


[PMID 14962673] Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.


[PMID 18483695] Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.


[PMID 21454443OA-icon.png] Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.


[PMID 21682854OA-icon.png] Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.