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rs193922109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922109(C;T)
Make rs193922109(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position51937342
GeneATP7B
is asnp
is mentioned by
dbSNPrs193922109
ebirs193922109
HLIrs193922109
Exacrs193922109
Varsomers193922109
Maprs193922109
PheGenIrs193922109
hapmaprs193922109
1000 genomesrs193922109
hgdprs193922109
ensemblrs193922109
gopubmedrs193922109
geneviewrs193922109
scholarrs193922109
googlers193922109
pharmgkbrs193922109
gwascentralrs193922109
openSNPrs193922109
23andMers193922109
23andMe allrs193922109
SNP Nexus

SNPshotrs193922109
SNPdbers193922109
MSV3drs193922109
GWAS Ctlgrs193922109
Max Magnitude0
ClinVar
Risk rs193922109(T;T)
Alt rs193922109(T;T)
Reference rs193922109(C;C)
Significance Other
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52511478G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000029377.4,


[PMID 1789787] Two-dimensional nuclear magnetic resonance study of brain natriuretic peptide in aqueous solution.


[PMID 8533760OA-icon.png] Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.


[PMID 9311736OA-icon.png] Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.


[PMID 11472373] Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.


[PMID 16545904] Different neurological outcome of liver transplantation for Wilson's disease in two homozygotic twins.


[PMID 18034201] Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.