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rs138427376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs138427376(A;G)
Make rs138427376(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51968544
GeneATP7B
is asnp
is mentioned by
dbSNPrs138427376
ebirs138427376
HLIrs138427376
Exacrs138427376
Varsomers138427376
Maprs138427376
PheGenIrs138427376
hapmaprs138427376
1000 genomesrs138427376
hgdprs138427376
ensemblrs138427376
gopubmedrs138427376
geneviewrs138427376
scholarrs138427376
googlers138427376
pharmgkbrs138427376
gwascentralrs138427376
openSNPrs138427376
23andMers138427376
23andMe allrs138427376
SNP Nexus

SNPshotrs138427376
SNPdbers138427376
MSV3drs138427376
GWAS Ctlgrs138427376
GMAF0.003673
Max Magnitude0
ClinVar
Risk rs138427376(G;G)
Alt rs138427376(G;G)
Reference rs138427376(A;A)
Significance Other
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 0
HGVS NC_000013.10:g.52542680A>G
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000029352.3,


[PMID 18373411] New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.