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rs193922107

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922107(C;T)
Make rs193922107(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51939091
GeneATP7B
is asnp
is mentioned by
dbSNPrs193922107
ebirs193922107
HLIrs193922107
Exacrs193922107
Varsomers193922107
Maprs193922107
PheGenIrs193922107
hapmaprs193922107
1000 genomesrs193922107
hgdprs193922107
ensemblrs193922107
gopubmedrs193922107
geneviewrs193922107
scholarrs193922107
googlers193922107
pharmgkbrs193922107
gwascentralrs193922107
openSNPrs193922107
23andMers193922107
23andMe allrs193922107
SNP Nexus

SNPshotrs193922107
SNPdbers193922107
MSV3drs193922107
GWAS Ctlgrs193922107
Max Magnitude0
ClinVar
Risk rs193922107(T;T)
Alt rs193922107(T;T)
Reference rs193922107(C;C)
Significance Other
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52513227G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029374.3,


[PMID 19118OA-icon.png] Studies on the cardiovascular effects of pindolol in DOCA/saline hypertensive rats.


[PMID 10447265] Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.


[PMID 10544227OA-icon.png] Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.


[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 16684691] Familial gene analysis for Wilson disease from north-west Indian patients.


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