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rs28942076

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28942076(A;A)
Make rs28942076(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51949700
GeneATP7B
is asnp
is mentioned by
dbSNPrs28942076
ebirs28942076
HLIrs28942076
Exacrs28942076
Varsomers28942076
Maprs28942076
PheGenIrs28942076
hapmaprs28942076
1000 genomesrs28942076
hgdprs28942076
ensemblrs28942076
gopubmedrs28942076
geneviewrs28942076
scholarrs28942076
googlers28942076
pharmgkbrs28942076
gwascentralrs28942076
openSNPrs28942076
23andMers28942076
23andMe allrs28942076
SNP Nexus

SNPshotrs28942076
SNPdbers28942076
MSV3drs28942076
GWAS Ctlgrs28942076
Max Magnitude0
OMIM606882
DescWILSON DISEASE
Variant0013
Relatedalso


ClinVar
Risk rs28942076(A;A)
Alt rs28942076(A;A)
Reference rs28942076(G;G)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52523836C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004060.2,