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rs137852608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852608(C;T)
Make rs137852608(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position98396398
GeneCNGA3
is asnp
is mentioned by
dbSNPrs137852608
ebirs137852608
HLIrs137852608
Exacrs137852608
Varsomers137852608
Maprs137852608
PheGenIrs137852608
hapmaprs137852608
1000 genomesrs137852608
hgdprs137852608
ensemblrs137852608
gopubmedrs137852608
geneviewrs137852608
scholarrs137852608
googlers137852608
pharmgkbrs137852608
gwascentralrs137852608
openSNPrs137852608
23andMers137852608
23andMe allrs137852608
SNP Nexus

SNPshotrs137852608
SNPdbers137852608
MSV3drs137852608
GWAS Ctlgrs137852608
Max Magnitude0
OMIM600053
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852608(T;T)
Alt rs137852608(T;T)
Reference rs137852608(C;C)
Significance Pathogenic
Disease Achromatopsia 2
Variation info
Gene CNGA3
CLNDBN Achromatopsia 2
Reversed 0
HGVS NC_000002.11:g.99012861C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010087.3,