Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517233(A;G)
Make rs1057517233(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51937395
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057517233
dbSNP (classic)rs1057517233
ClinGenrs1057517233
ebirs1057517233
HLIrs1057517233
Exacrs1057517233
Gnomadrs1057517233
Varsomers1057517233
LitVarrs1057517233
Maprs1057517233
PheGenIrs1057517233
Biobankrs1057517233
1000 genomesrs1057517233
hgdprs1057517233
ensemblrs1057517233
geneviewrs1057517233
scholarrs1057517233
googlers1057517233
pharmgkbrs1057517233
gwascentralrs1057517233
openSNPrs1057517233
23andMers1057517233
23andMe allrs1057517233
SNPshotrs1057517233
SNPdbers1057517233
MSV3drs1057517233
GWAS Ctlgrs1057517233
Max Magnitude0
ClinVar
Risk rs1057517233(G;G)
Alt rs1057517233(G;G)
Reference Rs1057517233(A;A)
Significance Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52511531T>C
CLNSRC
CLNACC RCV000411074.1,