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rs775541743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs775541743(A;T)
Make rs775541743(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51942481
GeneATP7B
is asnp
is mentioned by
dbSNPrs775541743
dbSNP (classic)rs775541743
ClinGenrs775541743
ebirs775541743
HLIrs775541743
Exacrs775541743
Gnomadrs775541743
Varsomers775541743
LitVarrs775541743
Maprs775541743
PheGenIrs775541743
Biobankrs775541743
1000 genomesrs775541743
hgdprs775541743
ensemblrs775541743
geneviewrs775541743
scholarrs775541743
googlers775541743
pharmgkbrs775541743
gwascentralrs775541743
openSNPrs775541743
23andMers775541743
SNPshotrs775541743
SNPdbers775541743
MSV3drs775541743
GWAS Ctlgrs775541743
Max Magnitude0
ClinVar
Risk rs775541743(T;T)
Alt rs775541743(T;T)
Reference Rs775541743(A;A)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52516617A>T
CLNSRC
CLNACC RCV000411980.1,