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rs745557293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs745557293(-;-)
Make rs745557293(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86578855
GeneCNGB3
is asnp
is mentioned by
dbSNPrs745557293
dbSNP (classic)rs745557293
ClinGenrs745557293
ebirs745557293
HLIrs745557293
Exacrs745557293
Gnomadrs745557293
Varsomers745557293
LitVarrs745557293
Maprs745557293
PheGenIrs745557293
Biobankrs745557293
1000 genomesrs745557293
hgdprs745557293
ensemblrs745557293
geneviewrs745557293
scholarrs745557293
googlers745557293
pharmgkbrs745557293
gwascentralrs745557293
openSNPrs745557293
23andMers745557293
SNPshotrs745557293
SNPdbers745557293
MSV3drs745557293
GWAS Ctlgrs745557293
Max Magnitude0
ClinVar
Risk rs745557293(-;-)
Alt rs745557293(-;-)
Reference Rs745557293(A;A)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 0
HGVS NC_000008.10:g.87591083delA
CLNSRC
CLNACC RCV000409769.1,