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rs147876778

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147876778(C;T)
Make rs147876778(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position86632864
GeneCNGB3
is asnp
is mentioned by
dbSNPrs147876778
ebirs147876778
HLIrs147876778
Exacrs147876778
Varsomers147876778
Maprs147876778
PheGenIrs147876778
hapmaprs147876778
1000 genomesrs147876778
hgdprs147876778
ensemblrs147876778
gopubmedrs147876778
geneviewrs147876778
scholarrs147876778
googlers147876778
pharmgkbrs147876778
gwascentralrs147876778
openSNPrs147876778
23andMers147876778
23andMe allrs147876778
SNP Nexus

SNPshotrs147876778
SNPdbers147876778
MSV3drs147876778
GWAS Ctlgrs147876778
Max Magnitude0
ClinVar
Risk rs147876778(T;T)
Alt rs147876778(T;T)
Reference rs147876778(C;C)
Significance Pathogenic
Disease not provided Achromatopsia 3 Stargardt disease 1
Variation info
Gene CNGB3
CLNDBN not provided Achromatopsia 3 Stargardt disease 1
Reversed 0
HGVS NC_000008.10:g.87645092C>T
CLNSRC
CLNACC RCV000132679.1, RCV000174144.1, RCV000195502.1,