Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1441549097
rs1441549097
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 26968735

2016
dbSNP: rs1441549097
rs1441549097
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340

2016
dbSNP: rs145549969
rs145549969
IFT140
0.800 GeneticVariation UNIPROT Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 26968735

2016
dbSNP: rs145549969
rs145549969
IFT140
0.800 GeneticVariation UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340

2016
dbSNP: rs387907192
rs387907192
IFT140
0.800 GeneticVariation UNIPROT Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 26968735

2016
dbSNP: rs387907192
rs387907192
IFT140
0.800 GeneticVariation UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340

2016
dbSNP: rs559371453
rs559371453
IFT140
0.800 GeneticVariation UNIPROT Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 26968735

2016
dbSNP: rs559371453
rs559371453
IFT140
0.800 GeneticVariation UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340

2016
dbSNP: rs1441549097
rs1441549097
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056

2015
dbSNP: rs145549969
rs145549969
IFT140
0.800 GeneticVariation UNIPROT Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056

2015
dbSNP: rs387907192
rs387907192
IFT140
0.800 GeneticVariation UNIPROT Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056

2015
dbSNP: rs559371453
rs559371453
IFT140
0.800 GeneticVariation UNIPROT Mutations in human IFT140 cause non-syndromic retinal degeneration. 26216056

2015
dbSNP: rs1441549097
rs1441549097
IFT140 ; LOC105371046
G 0.800 CausalMutation CLINVAR

dbSNP: rs145549969
rs145549969
IFT140
G 0.800 CausalMutation CLINVAR

dbSNP: rs387907192
rs387907192
IFT140
T 0.800 CausalMutation CLINVAR

dbSNP: rs559371453
rs559371453
IFT140
G 0.800 CausalMutation CLINVAR

dbSNP: rs758052634
rs758052634
IFT140 ; LOC105371046
0.800 GeneticVariation UNIPROT

dbSNP: rs758052634
rs758052634
IFT140 ; LOC105371046
A 0.800 CausalMutation CLINVAR

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: rs767213195
rs767213195
IFT140
0.700 GeneticVariation UNIPROT Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 26968735

2016
dbSNP: rs767213195
rs767213195
IFT140
0.700 GeneticVariation UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340

2016
dbSNP: rs772757427
rs772757427
IFT140 ; LOC105371046
0.700 GeneticVariation UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340

2016
dbSNP: rs772757427
rs772757427
IFT140 ; LOC105371046
0.700 GeneticVariation UNIPROT Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 26968735

2016
dbSNP: rs781117803
rs781117803
IFT140
0.700 GeneticVariation UNIPROT The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 26359340

2016