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rs753250853

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs753250853(A;T)
Make rs753250853(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51942535
GeneATP7B
is asnp
is mentioned by
dbSNPrs753250853
ebirs753250853
HLIrs753250853
Exacrs753250853
Varsomers753250853
Maprs753250853
PheGenIrs753250853
hapmaprs753250853
1000 genomesrs753250853
hgdprs753250853
ensemblrs753250853
gopubmedrs753250853
geneviewrs753250853
scholarrs753250853
googlers753250853
pharmgkbrs753250853
gwascentralrs753250853
openSNPrs753250853
23andMers753250853
23andMe allrs753250853
SNP Nexus

SNPshotrs753250853
SNPdbers753250853
MSV3drs753250853
GWAS Ctlgrs753250853
Max Magnitude0
ClinVar
Risk rs753250853(T;T)
Alt rs753250853(T;T)
Reference rs753250853(A;A)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 0
HGVS NC_000013.10:g.52516671A>T
CLNSRC
CLNACC RCV000169240.1,