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rs1057517191

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517191(-;-)
Make rs1057517191(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51934912
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057517191
dbSNP (old)rs1057517191
ClinGenrs1057517191
ebirs1057517191
HLIrs1057517191
Exacrs1057517191
Gnomadrs1057517191
Varsomers1057517191
Maprs1057517191
PheGenIrs1057517191
Biobankrs1057517191
1000 genomesrs1057517191
hgdprs1057517191
ensemblrs1057517191
gopubmedrs1057517191
geneviewrs1057517191
scholarrs1057517191
googlers1057517191
pharmgkbrs1057517191
gwascentralrs1057517191
openSNPrs1057517191
23andMers1057517191
23andMe allrs1057517191
SNPshotrs1057517191
SNPdbers1057517191
MSV3drs1057517191
GWAS Ctlgrs1057517191
Max Magnitude0
ClinVar
Risk rs1057517191(-;-)
Alt rs1057517191(-;-)
Reference Rs1057517191(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52509048delG
CLNSRC
CLNACC RCV000409938.1,


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