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rs732774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs732774(A;A)
Make rs732774(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51949672
GeneATP7B
is asnp
is mentioned by
dbSNPrs732774
ebirs732774
HLIrs732774
Exacrs732774
Varsomers732774
Maprs732774
PheGenIrs732774
hapmaprs732774
1000 genomesrs732774
hgdprs732774
ensemblrs732774
gopubmedrs732774
geneviewrs732774
scholarrs732774
googlers732774
pharmgkbrs732774
gwascentralrs732774
openSNPrs732774
23andMers732774
23andMe allrs732774
SNP Nexus

SNPshotrs732774
SNPdbers732774
MSV3drs732774
GWAS Ctlgrs732774
GMAF0.4803
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 22356903] Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease


ClinVar
Risk rs732774(A;A)
Alt rs732774(A;A)
Reference rs732774(G;G)
Significance Other
Disease Wilson's disease not specified
Variation info
Gene ATP7B
CLNDBN Wilson's disease not specified
Reversed 1
HGVS NC_000013.10:g.52523808C>T
CLNSRC HGMD
CLNACC RCV000029357.1, RCV000078044.6,



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


GET Evidence
ATP7B-R952K
aa_change Arg952Lys
aa_change_short R952K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.575015
summary