Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909835(A;A)
Make rs121909835(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149883511
GenePDE6A
is asnp
is mentioned by
dbSNPrs121909835
ebirs121909835
HLIrs121909835
Exacrs121909835
Varsomers121909835
Maprs121909835
PheGenIrs121909835
hapmaprs121909835
1000 genomesrs121909835
hgdprs121909835
ensemblrs121909835
gopubmedrs121909835
geneviewrs121909835
scholarrs121909835
googlers121909835
pharmgkbrs121909835
gwascentralrs121909835
openSNPrs121909835
23andMers121909835
23andMe allrs121909835
SNP Nexus

SNPshotrs121909835
SNPdbers121909835
MSV3drs121909835
GWAS Ctlgrs121909835
Max Magnitude0
ClinVar
Risk rs121909835(A;A)
Alt rs121909835(A;A)
Reference rs121909835(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 43
Variation info
Gene PDE6A
CLNDBN Retinitis pigmentosa 43
Reversed 1
HGVS NC_000005.9:g.149263074C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022755.24,


[PMID 21039428] Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.