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rs72552255

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72552255(C;T)
Make rs72552255(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position51946414
GeneATP7B
is asnp
is mentioned by
dbSNPrs72552255
ebirs72552255
HLIrs72552255
Exacrs72552255
Varsomers72552255
Maprs72552255
PheGenIrs72552255
hapmaprs72552255
1000 genomesrs72552255
hgdprs72552255
ensemblrs72552255
gopubmedrs72552255
geneviewrs72552255
scholarrs72552255
googlers72552255
pharmgkbrs72552255
gwascentralrs72552255
openSNPrs72552255
23andMers72552255
23andMe allrs72552255
SNP Nexus

SNPshotrs72552255
SNPdbers72552255
MSV3drs72552255
GWAS Ctlgrs72552255
Max Magnitude0
ClinVar
Risk rs72552255(T;T)
Alt rs72552255(T;T)
Reference rs72552255(C;C)
Significance Pathogenic
Disease Wilson's disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson's disease not provided
Reversed 1
HGVS NC_000013.10:g.52520550G>A
CLNSRC HGMD
CLNACC RCV000029359.2, RCV000078046.3,



[PMID 98378] Differences in pituitary and testicular function between diabetic patients on insulin and oral anti-diabetic agents.


[PMID 11175281] Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples.


[PMID 16283883] Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.


[PMID 17461475OA-icon.png] Diagnostic criteria for acute liver failure due to Wilson disease.


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


[PMID 18483695] Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.