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rs1057516844

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516844(C;T)
Make rs1057516844(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51958363
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516844
dbSNP (old)rs1057516844
ClinGenrs1057516844
ebirs1057516844
HLIrs1057516844
Exacrs1057516844
Gnomadrs1057516844
Varsomers1057516844
Maprs1057516844
PheGenIrs1057516844
Biobankrs1057516844
1000 genomesrs1057516844
hgdprs1057516844
ensemblrs1057516844
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openSNPrs1057516844
23andMers1057516844
23andMe allrs1057516844
SNP Nexus

SNPshotrs1057516844
SNPdbers1057516844
MSV3drs1057516844
GWAS Ctlgrs1057516844
Max Magnitude0
ClinVar
Risk rs1057516844(T;T)
Alt rs1057516844(T;T)
Reference Rs1057516844(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52532499G>A
CLNSRC
CLNACC RCV000410970.1,