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rs758115611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs758115611(-;T)
Make rs758115611(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51974694
GeneATP7B
is asnp
is mentioned by
dbSNPrs758115611
dbSNP (classic)rs758115611
ClinGenrs758115611
ebirs758115611
HLIrs758115611
Exacrs758115611
Gnomadrs758115611
Varsomers758115611
LitVarrs758115611
Maprs758115611
PheGenIrs758115611
Biobankrs758115611
1000 genomesrs758115611
hgdprs758115611
ensemblrs758115611
geneviewrs758115611
scholarrs758115611
googlers758115611
pharmgkbrs758115611
gwascentralrs758115611
openSNPrs758115611
23andMers758115611
SNPshotrs758115611
SNPdbers758115611
MSV3drs758115611
GWAS Ctlgrs758115611
Max Magnitude0
ClinVar
Risk rs758115611(T;T)
Alt rs758115611(T;T)
Reference Rs758115611(-;-)
Significance Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52548831dupT
CLNSRC
CLNACC RCV000411870.1,