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rs1057516227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057516227(-;-)
Make rs1057516227(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51937354
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516227
dbSNP (old)rs1057516227
ClinGenrs1057516227
ebirs1057516227
HLIrs1057516227
Exacrs1057516227
Gnomadrs1057516227
Varsomers1057516227
Maprs1057516227
PheGenIrs1057516227
Biobankrs1057516227
1000 genomesrs1057516227
hgdprs1057516227
ensemblrs1057516227
gopubmedrs1057516227
geneviewrs1057516227
scholarrs1057516227
googlers1057516227
pharmgkbrs1057516227
gwascentralrs1057516227
openSNPrs1057516227
23andMers1057516227
23andMe allrs1057516227
SNPshotrs1057516227
SNPdbers1057516227
MSV3drs1057516227
GWAS Ctlgrs1057516227
Max Magnitude0
ClinVar
Risk rs1057516227(-;-)
Alt rs1057516227(-;-)
Reference Rs1057516227(CA;CA)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52511490_52511491delTG
CLNSRC
CLNACC RCV000410818.1,