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rs1057516380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516380(A;A)
Make rs1057516380(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51958509
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516380
dbSNP (classic)rs1057516380
ClinGenrs1057516380
ebirs1057516380
HLIrs1057516380
Exacrs1057516380
Gnomadrs1057516380
Varsomers1057516380
LitVarrs1057516380
Maprs1057516380
PheGenIrs1057516380
Biobankrs1057516380
1000 genomesrs1057516380
hgdprs1057516380
ensemblrs1057516380
geneviewrs1057516380
scholarrs1057516380
googlers1057516380
pharmgkbrs1057516380
gwascentralrs1057516380
openSNPrs1057516380
23andMers1057516380
23andMe allrs1057516380
SNPshotrs1057516380
SNPdbers1057516380
MSV3drs1057516380
GWAS Ctlgrs1057516380
Max Magnitude0
ClinVar
Risk rs1057516380(A;A)
Alt rs1057516380(A;A)
Reference Rs1057516380(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52532645G>T
CLNSRC
CLNACC RCV000411738.1,