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rs781266802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGAAC;CAGAAC) 0 common in clinvar
Make rs781266802(-;-)
Make rs781266802(-;CAGAAC)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51939096
GeneATP7B
is asnp
is mentioned by
dbSNPrs781266802
dbSNP (classic)rs781266802
ClinGenrs781266802
ebirs781266802
HLIrs781266802
Exacrs781266802
Gnomadrs781266802
Varsomers781266802
LitVarrs781266802
Maprs781266802
PheGenIrs781266802
Biobankrs781266802
1000 genomesrs781266802
hgdprs781266802
ensemblrs781266802
geneviewrs781266802
scholarrs781266802
googlers781266802
pharmgkbrs781266802
gwascentralrs781266802
openSNPrs781266802
23andMers781266802
SNPshotrs781266802
SNPdbers781266802
MSV3drs781266802
GWAS Ctlgrs781266802
Max Magnitude0
ClinVar
Risk rs781266802(-;-)
Alt rs781266802(-;-)
Reference Rs781266802(CAGAAC;CAGAAC)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52513232_52513237delCAGAAC
CLNSRC Counsyl
CLNACC RCV000169402.1,