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rs786204492

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204492(C;T)
Make rs786204492(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position86671046
GeneCNGB3
is asnp
is mentioned by
dbSNPrs786204492
ebirs786204492
HLIrs786204492
Exacrs786204492
Varsomers786204492
Maprs786204492
PheGenIrs786204492
hapmaprs786204492
1000 genomesrs786204492
hgdprs786204492
ensemblrs786204492
gopubmedrs786204492
geneviewrs786204492
scholarrs786204492
googlers786204492
pharmgkbrs786204492
gwascentralrs786204492
openSNPrs786204492
23andMers786204492
23andMe allrs786204492
SNP Nexus

SNPshotrs786204492
SNPdbers786204492
MSV3drs786204492
GWAS Ctlgrs786204492
Max Magnitude0
ClinVar
Risk rs786204492(T;T)
Alt rs786204492(T;T)
Reference rs786204492(C;C)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87683274G>A
CLNSRC
CLNACC RCV000169161.1,