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rs1057516418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516418(-;T)
Make rs1057516418(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51970522
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516418
dbSNP (old)rs1057516418
ClinGenrs1057516418
ebirs1057516418
HLIrs1057516418
Exacrs1057516418
Gnomadrs1057516418
Varsomers1057516418
Maprs1057516418
PheGenIrs1057516418
Biobankrs1057516418
1000 genomesrs1057516418
hgdprs1057516418
ensemblrs1057516418
gopubmedrs1057516418
geneviewrs1057516418
scholarrs1057516418
googlers1057516418
pharmgkbrs1057516418
gwascentralrs1057516418
openSNPrs1057516418
23andMers1057516418
23andMe allrs1057516418
SNPshotrs1057516418
SNPdbers1057516418
MSV3drs1057516418
GWAS Ctlgrs1057516418
Max Magnitude0
ClinVar
Risk rs1057516418(T;T)
Alt rs1057516418(T;T)
Reference Rs1057516418(-;-)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52544659dupA
CLNSRC
CLNACC RCV000409626.1,