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rs775055397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs775055397(A;A)
Make rs775055397(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51946336
GeneATP7B
is asnp
is mentioned by
dbSNPrs775055397
dbSNP (classic)rs775055397
ClinGenrs775055397
ebirs775055397
HLIrs775055397
Exacrs775055397
Gnomadrs775055397
Varsomers775055397
LitVarrs775055397
Maprs775055397
PheGenIrs775055397
Biobankrs775055397
1000 genomesrs775055397
hgdprs775055397
ensemblrs775055397
geneviewrs775055397
scholarrs775055397
googlers775055397
pharmgkbrs775055397
gwascentralrs775055397
openSNPrs775055397
23andMers775055397
SNPshotrs775055397
SNPdbers775055397
MSV3drs775055397
GWAS Ctlgrs775055397
Max Magnitude0
ClinVar
Risk rs775055397(A;A)
Alt rs775055397(A;A)
Reference Rs775055397(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52520472G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169109.1,