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rs200311463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200311463(C;G)
Make rs200311463(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position14978047
GenePDE6H
is asnp
is mentioned by
dbSNPrs200311463
ebirs200311463
HLIrs200311463
Exacrs200311463
Varsomers200311463
Maprs200311463
PheGenIrs200311463
hapmaprs200311463
1000 genomesrs200311463
hgdprs200311463
ensemblrs200311463
gopubmedrs200311463
geneviewrs200311463
scholarrs200311463
googlers200311463
pharmgkbrs200311463
gwascentralrs200311463
openSNPrs200311463
23andMers200311463
23andMe allrs200311463
SNP Nexus

SNPshotrs200311463
SNPdbers200311463
MSV3drs200311463
GWAS Ctlgrs200311463
Max Magnitude0
ClinVar
Risk rs200311463(G;G)
Alt rs200311463(G;G)
Reference rs200311463(C;C)
Significance Pathogenic
Disease Achromatopsia 6 Retinal cone dystrophy 3A
Variation info
Gene PDE6H
CLNDBN Achromatopsia 6 Retinal cone dystrophy 3A
Reversed 0
HGVS NC_000012.11:g.15130981C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030807.3, RCV000055928.1,