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rs1060499593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTG;AGTG) 0 common in clinvar
Make rs1060499593(-;-)
Make rs1060499593(-;AGTG)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51970658
GeneATP7B
is asnp
is mentioned by
dbSNPrs1060499593
dbSNP (old)rs1060499593
ClinGenrs1060499593
ebirs1060499593
HLIrs1060499593
Exacrs1060499593
Gnomadrs1060499593
Varsomers1060499593
Maprs1060499593
PheGenIrs1060499593
Biobankrs1060499593
1000 genomesrs1060499593
hgdprs1060499593
ensemblrs1060499593
gopubmedrs1060499593
geneviewrs1060499593
scholarrs1060499593
googlers1060499593
pharmgkbrs1060499593
gwascentralrs1060499593
openSNPrs1060499593
23andMers1060499593
23andMe allrs1060499593
SNPshotrs1060499593
SNPdbers1060499593
MSV3drs1060499593
GWAS Ctlgrs1060499593
Max Magnitude0
ClinVar
Risk rs1060499593(-;-)
Alt rs1060499593(-;-)
Reference Rs1060499593(AGTG;AGTG)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52544794_52544797delCACT
CLNSRC
CLNACC RCV000477923.1,