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rs1061472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1061472(A;G)
Make rs1061472(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51950352
GeneATP7B
is asnp
is mentioned by
dbSNPrs1061472
ebirs1061472
HLIrs1061472
Exacrs1061472
Varsomers1061472
Maprs1061472
PheGenIrs1061472
hapmaprs1061472
1000 genomesrs1061472
hgdprs1061472
ensemblrs1061472
gopubmedrs1061472
geneviewrs1061472
scholarrs1061472
googlers1061472
pharmgkbrs1061472
gwascentralrs1061472
openSNPrs1061472
23andMers1061472
23andMe allrs1061472
SNP Nexus

SNPshotrs1061472
SNPdbers1061472
MSV3drs1061472
GWAS Ctlgrs1061472
GMAF0.4927
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 rs1061472(G;G)
Alt rs1061472(G;G)
Reference rs1061472(A;A)
Significance Non-pathogenic
Disease Wilson's disease not specified
Variation info
Gene ATP7B
CLNDBN Wilson's disease not specified
Reversed 1
HGVS NC_000013.10:g.52524488T>C
CLNSRC HGMD
CLNACC RCV000029356.1, RCV000078043.5,



[PMID 11405812] Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.


GET Evidence
ATP7B-K832R
aa_change Lys832Arg
aa_change_short K832R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.555216
summary



[PMID 24852429] The ATP7B genetic polymorphisms predict clinical outcome to platinum-based chemotherapy in lung cancer patients