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rs193922111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922111(-;-)
Make rs193922111(-;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51974375
GeneATP7B
is asnp
is mentioned by
dbSNPrs193922111
ebirs193922111
HLIrs193922111
Exacrs193922111
Varsomers193922111
Maprs193922111
PheGenIrs193922111
hapmaprs193922111
1000 genomesrs193922111
hgdprs193922111
ensemblrs193922111
gopubmedrs193922111
geneviewrs193922111
scholarrs193922111
googlers193922111
pharmgkbrs193922111
gwascentralrs193922111
openSNPrs193922111
23andMers193922111
23andMe allrs193922111
SNP Nexus

SNPshotrs193922111
SNPdbers193922111
MSV3drs193922111
GWAS Ctlgrs193922111
Max Magnitude0
ClinVar
Risk rs193922111(;)
Alt rs193922111(;)
Reference rs193922111(T;T)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52548511delA
CLNSRC ClinVar LabCorp
CLNACC RCV000029384.1,


[PMID 1124372] [Psychodiagnostic factors of indication for abortion].


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


[PMID 9801873] Haplotype and mutation analysis in Greek patients with Wilson disease.


[PMID 11216666] Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.


[PMID 15523622] Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).


[PMID 19172127] Wilson disease in children: analysis of 57 cases.