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rs749085322

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs749085322(C;C)
Make rs749085322(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51941132
GeneATP7B
is asnp
is mentioned by
dbSNPrs749085322
ebirs749085322
HLIrs749085322
Exacrs749085322
Varsomers749085322
Maprs749085322
PheGenIrs749085322
hapmaprs749085322
1000 genomesrs749085322
hgdprs749085322
ensemblrs749085322
gopubmedrs749085322
geneviewrs749085322
scholarrs749085322
googlers749085322
pharmgkbrs749085322
gwascentralrs749085322
openSNPrs749085322
23andMers749085322
23andMe allrs749085322
SNP Nexus

SNPshotrs749085322
SNPdbers749085322
MSV3drs749085322
GWAS Ctlgrs749085322
Max Magnitude0
ClinVar
Risk rs749085322(C;C)
Alt rs749085322(C;C)
Reference rs749085322(T;T)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 0
HGVS NC_000013.10:g.52515268T>C
CLNSRC
CLNACC RCV000193725.1,