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rs147118493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147118493(A;A)
Make rs147118493(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position98370077
GeneCNGA3
is asnp
is mentioned by
dbSNPrs147118493
dbSNP (classic)rs147118493
ClinGenrs147118493
ebirs147118493
HLIrs147118493
Exacrs147118493
Gnomadrs147118493
Varsomers147118493
LitVarrs147118493
Maprs147118493
PheGenIrs147118493
Biobankrs147118493
1000 genomesrs147118493
hgdprs147118493
ensemblrs147118493
geneviewrs147118493
scholarrs147118493
googlers147118493
pharmgkbrs147118493
gwascentralrs147118493
openSNPrs147118493
23andMers147118493
SNPshotrs147118493
SNPdbers147118493
MSV3drs147118493
GWAS Ctlgrs147118493
Max Magnitude0
ClinVar
Risk rs147118493(A;A)
Alt rs147118493(A;A)
Reference Rs147118493(G;G)
Significance Pathogenic
Disease Achromatopsia 2 not provided
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2 not provided
Reversed 0
HGVS NC_000002.11:g.98986540G>A
CLNSRC
CLNACC RCV000190571.1, RCV000323992.1,