Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555491448
rs1555491448
IFT140 ; LOC105371046
0.700 GeneticVariation UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340

2016
dbSNP: rs1555491448
rs1555491448
IFT140 ; LOC105371046
0.700 GeneticVariation UNIPROT Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 26968735

2016
dbSNP: rs1555491448
rs1555491448
IFT140 ; LOC105371046
0.700 GeneticVariation UNIPROT Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056

2015