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rs1057517141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517141(-;TT)
Make rs1057517141(TT;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51970697
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057517141
dbSNP (old)rs1057517141
ClinGenrs1057517141
ebirs1057517141
HLIrs1057517141
Exacrs1057517141
Gnomadrs1057517141
Varsomers1057517141
LitVarrs1057517141
Maprs1057517141
PheGenIrs1057517141
Biobankrs1057517141
1000 genomesrs1057517141
hgdprs1057517141
ensemblrs1057517141
gopubmedrs1057517141
geneviewrs1057517141
scholarrs1057517141
googlers1057517141
pharmgkbrs1057517141
gwascentralrs1057517141
openSNPrs1057517141
23andMers1057517141
23andMe allrs1057517141
SNPshotrs1057517141
SNPdbers1057517141
MSV3drs1057517141
GWAS Ctlgrs1057517141
Max Magnitude0
ClinVar
Risk rs1057517141(TT;TT)
Alt rs1057517141(TT;TT)
Reference Rs1057517141(-;-)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52544833_52544834insAA
CLNSRC
CLNACC RCV000412459.1,