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rs76151636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs76151636(G;T)
Make rs76151636(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51944145
GeneATP7B
is asnp
is mentioned by
dbSNPrs76151636
ebirs76151636
HLIrs76151636
Exacrs76151636
Varsomers76151636
Maprs76151636
PheGenIrs76151636
hapmaprs76151636
1000 genomesrs76151636
hgdprs76151636
ensemblrs76151636
gopubmedrs76151636
geneviewrs76151636
scholarrs76151636
googlers76151636
pharmgkbrs76151636
gwascentralrs76151636
openSNPrs76151636
23andMers76151636
23andMe allrs76151636
SNP Nexus

SNPshotrs76151636
SNPdbers76151636
MSV3drs76151636
GWAS Ctlgrs76151636
GMAF0.001377
Max Magnitude0
OMIM606882
Desc
Variant0002
Relatedalso
OMIM606882
Desc
Variant0006
Relatedalso
ClinVar
Risk rs76151636(A,T;A,T)
Alt rs76151636(A,T;A,T)
Reference rs76151636(G;G)
Significance Pathogenic
Disease Wilson's disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson's disease not provided
Reversed 0
HGVS NC_000013.10:g.52518281G>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004052.6, RCV000078049.3,


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

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

[PMID 17717039OA-icon.png] Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.