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rs193922110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922110(A;A)
Make rs193922110(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51935659
GeneATP7B
is asnp
is mentioned by
dbSNPrs193922110
ebirs193922110
HLIrs193922110
Exacrs193922110
Varsomers193922110
Maprs193922110
PheGenIrs193922110
hapmaprs193922110
1000 genomesrs193922110
hgdprs193922110
ensemblrs193922110
gopubmedrs193922110
geneviewrs193922110
scholarrs193922110
googlers193922110
pharmgkbrs193922110
gwascentralrs193922110
openSNPrs193922110
23andMers193922110
23andMe allrs193922110
SNP Nexus

SNPshotrs193922110
SNPdbers193922110
MSV3drs193922110
GWAS Ctlgrs193922110
Max Magnitude0
ClinVar
Risk rs193922110(A,C;A,C)
Alt rs193922110(A,C;A,C)
Reference rs193922110(G;G)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52509795C>T
CLNSRC ClinVar
CLNACC RCV000029378.2,


[PMID 10502777] A study of Wilson disease mutations in Britain.