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rs564759960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs564759960(C;C)
Make rs564759960(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position86632879
GeneCNGB3
is asnp
is mentioned by
dbSNPrs564759960
dbSNP (classic)rs564759960
ClinGenrs564759960
ebirs564759960
HLIrs564759960
Exacrs564759960
Gnomadrs564759960
Varsomers564759960
LitVarrs564759960
Maprs564759960
PheGenIrs564759960
Biobankrs564759960
1000 genomesrs564759960
hgdprs564759960
ensemblrs564759960
geneviewrs564759960
scholarrs564759960
googlers564759960
pharmgkbrs564759960
gwascentralrs564759960
openSNPrs564759960
23andMers564759960
SNPshotrs564759960
SNPdbers564759960
MSV3drs564759960
GWAS Ctlgrs564759960
Max Magnitude0
ClinVar
Risk rs564759960(C;C)
Alt rs564759960(C;C)
Reference Rs564759960(T;T)
Significance Pathogenic
Disease Stargardt disease 1
Variation info
Gene CNGB3
CLNDBN Stargardt disease 1
Reversed 0
HGVS NC_000008.10:g.87645107T>C
CLNSRC
CLNACC RCV000195502.1,