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rs121918539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918539(A;G)
Make rs121918539(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position93635590
GenePDE6C
is asnp
is mentioned by
dbSNPrs121918539
ebirs121918539
HLIrs121918539
Exacrs121918539
Varsomers121918539
Maprs121918539
PheGenIrs121918539
hapmaprs121918539
1000 genomesrs121918539
hgdprs121918539
ensemblrs121918539
gopubmedrs121918539
geneviewrs121918539
scholarrs121918539
googlers121918539
pharmgkbrs121918539
gwascentralrs121918539
openSNPrs121918539
23andMers121918539
23andMe allrs121918539
SNP Nexus

SNPshotrs121918539
SNPdbers121918539
MSV3drs121918539
GWAS Ctlgrs121918539
Max Magnitude0
OMIM600827
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918539(G;G)
Alt rs121918539(G;G)
Reference rs121918539(A;A)
Significance Pathogenic
Disease Achromatopsia 5
Variation info
Gene PDE6C
CLNDBN Achromatopsia 5
Reversed 0
HGVS NC_000010.10:g.95395347A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009312.3,