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rs786204498

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204498(C;T)
Make rs786204498(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position86743516
GeneCNGB3
is asnp
is mentioned by
dbSNPrs786204498
ebirs786204498
HLIrs786204498
Exacrs786204498
Varsomers786204498
Maprs786204498
PheGenIrs786204498
hapmaprs786204498
1000 genomesrs786204498
hgdprs786204498
ensemblrs786204498
gopubmedrs786204498
geneviewrs786204498
scholarrs786204498
googlers786204498
pharmgkbrs786204498
gwascentralrs786204498
openSNPrs786204498
23andMers786204498
23andMe allrs786204498
SNP Nexus

SNPshotrs786204498
SNPdbers786204498
MSV3drs786204498
GWAS Ctlgrs786204498
Max Magnitude0
ClinVar
Risk rs786204498(T;T)
Alt rs786204498(T;T)
Reference rs786204498(C;C)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87755744G>A
CLNSRC
CLNACC RCV000169174.1,