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rs193922102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922102(G;G)
Make rs193922102(G;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51958552
GeneATP7B
is asnp
is mentioned by
dbSNPrs193922102
ebirs193922102
HLIrs193922102
Exacrs193922102
Varsomers193922102
Maprs193922102
PheGenIrs193922102
hapmaprs193922102
1000 genomesrs193922102
hgdprs193922102
ensemblrs193922102
gopubmedrs193922102
geneviewrs193922102
scholarrs193922102
googlers193922102
pharmgkbrs193922102
gwascentralrs193922102
openSNPrs193922102
23andMers193922102
23andMe allrs193922102
SNP Nexus

SNPshotrs193922102
SNPdbers193922102
MSV3drs193922102
GWAS Ctlgrs193922102
Max Magnitude0
ClinVar
Risk rs193922102(C,G;C,G)
Alt rs193922102(C,G;C,G)
Reference rs193922102(T;T)
Significance Other
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52532688A>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000029354.3,


[PMID 12325021] Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.


[PMID 18728530] High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.