RS114973968 PDE6A

Health Risk Chr 5:149921689 snv missense variant
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Associated Conditions
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa
Retinal dystrophy
GWAS Studies (1)
Trait Risk Allele OR / Beta P-value Study
PDGFRB protein levels A OR: 0.31 5E-16 PubMed
Population Frequencies
gnomAD ALL
99.5%
1kG AFR
99.8%
1kG ALL
99.8%
1kG AMR
100%
1kG EAS
0.1%
1kG EUR
0.6%
1kG SAS
100%
Other Variants in PDE6A
rs121918576 rs121918577 rs121918578 rs121909835 rs17711594 rs78775072 rs398123394 rs61733362 rs137853899 rs142259966
Ask Dr. Hemsworth about this variant