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rs193922104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922104(C;C)
Make rs193922104(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51946391
GeneATP7B
is asnp
is mentioned by
dbSNPrs193922104
ebirs193922104
HLIrs193922104
Exacrs193922104
Varsomers193922104
Maprs193922104
PheGenIrs193922104
hapmaprs193922104
1000 genomesrs193922104
hgdprs193922104
ensemblrs193922104
gopubmedrs193922104
geneviewrs193922104
scholarrs193922104
googlers193922104
pharmgkbrs193922104
gwascentralrs193922104
openSNPrs193922104
23andMers193922104
23andMe allrs193922104
SNP Nexus

SNPshotrs193922104
SNPdbers193922104
MSV3drs193922104
GWAS Ctlgrs193922104
Max Magnitude0
ClinVar
Risk rs193922104(C;C)
Alt rs193922104(C;C)
Reference rs193922104(T;T)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52520527A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029360.1,