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rs28942074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Wilson's disease mutation
(T;T) 5.7 Wilson's disease; variable age of onset
ReferenceGRCh38 38.1/141
Chromosome13
Position51958333
GeneATP7B
is asnp
is mentioned by
dbSNPrs28942074
ClinGenrs28942074
ebirs28942074
HLIrs28942074
Exacrs28942074
Varsomers28942074
Maprs28942074
PheGenIrs28942074
hapmaprs28942074
1000 genomesrs28942074
hgdprs28942074
ensemblrs28942074
gopubmedrs28942074
geneviewrs28942074
scholarrs28942074
googlers28942074
pharmgkbrs28942074
gwascentralrs28942074
openSNPrs28942074
23andMers28942074
23andMe allrs28942074
SNP Nexus

SNPshotrs28942074
SNPdbers28942074
MSV3drs28942074
GWAS Ctlgrs28942074
Max Magnitude5.7

aka c.2333G>T, p.Arg778Leu, R778L

This mutation is commonly considered the most frequent ATP7B gene mutation associated with Wilson's disease in Asian populations.

OMIM606882
DescWILSON DISEASE
Variant0009
Relatedalso
Neighborrs28942075
Distance40


ClinVar
Risk rs28942074(A;A) Rs28942074(T;T)
Alt rs28942074(A;A) Rs28942074(T;T)
Reference Rs28942074(G;G)
Significance Pathogenic
Disease Wilson disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson disease not provided
Reversed 1
HGVS NC_000013.10:g.52532469C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004056.2, RCV000389880.1,