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rs121918538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918538(A;A)
Make rs121918538(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position93626667
GenePDE6C
is asnp
is mentioned by
dbSNPrs121918538
ebirs121918538
HLIrs121918538
Exacrs121918538
Varsomers121918538
Maprs121918538
PheGenIrs121918538
hapmaprs121918538
1000 genomesrs121918538
hgdprs121918538
ensemblrs121918538
gopubmedrs121918538
geneviewrs121918538
scholarrs121918538
googlers121918538
pharmgkbrs121918538
gwascentralrs121918538
openSNPrs121918538
23andMers121918538
23andMe allrs121918538
SNP Nexus

SNPshotrs121918538
SNPdbers121918538
MSV3drs121918538
GWAS Ctlgrs121918538
Max Magnitude0
OMIM600827
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918538(A;A)
Alt rs121918538(A;A)
Reference rs121918538(T;T)
Significance Pathogenic
Disease Achromatopsia 5
Variation info
Gene PDE6C
CLNDBN Achromatopsia 5
Reversed 0
HGVS NC_000010.10:g.95386424T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009309.3,