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rs779904655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AGCATAT) 3 Carrier of a Wilson disease mutation
(AGCATAT;AGCATAT) 0 common in clinvar


Make rs779904655(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51960254
GeneATP7B
is asnp
is mentioned by
dbSNPrs779904655
dbSNP (classic)rs779904655
ClinGenrs779904655
ebirs779904655
HLIrs779904655
Exacrs779904655
Gnomadrs779904655
Varsomers779904655
LitVarrs779904655
Maprs779904655
PheGenIrs779904655
Biobankrs779904655
1000 genomesrs779904655
hgdprs779904655
ensemblrs779904655
geneviewrs779904655
scholarrs779904655
googlers779904655
pharmgkbrs779904655
gwascentralrs779904655
openSNPrs779904655
23andMers779904655
SNPshotrs779904655
SNPdbers779904655
MSV3drs779904655
GWAS Ctlgrs779904655
Max Magnitude3
ClinVar
Risk rs779904655(-;-)
Alt rs779904655(-;-)
Reference Rs779904655(AGCATAT;AGCATAT)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52534390_52534396delAGCATAT
CLNSRC Counsyl
CLNACC RCV000169214.1,