Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200649783
rs200649783
WDR35
A 0.800 GeneticVariation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947

2017
dbSNP: rs200649783
rs200649783
WDR35
0.800 GeneticVariation UNIPROT Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947

2017
dbSNP: rs200649783
rs200649783
WDR35
A 0.800 GeneticVariation CLINVAR The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 27158779

2016
dbSNP: rs200649783
rs200649783
WDR35
0.800 GeneticVariation UNIPROT The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 27158779

2016
dbSNP: rs200649783
rs200649783
WDR35
0.800 GeneticVariation UNIPROT Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986

2011
dbSNP: rs431905505
rs431905505
WDR35
0.800 GeneticVariation UNIPROT

dbSNP: rs431905505
rs431905505
WDR35
G 0.800 CausalMutation CLINVAR

dbSNP: rs371669862
rs371669862
WDR35
T 0.700 GeneticVariation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
dbSNP: rs1050086118
rs1050086118
WDR35
A 0.700 CausalMutation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947

2017
dbSNP: rs1558342399
rs1558342399
WDR35
T 0.700 GeneticVariation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947

2017
dbSNP: rs199952377
rs199952377
WDR35
C 0.700 CausalMutation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779

2017
dbSNP: rs371669862
rs371669862
WDR35
T 0.700 GeneticVariation CLINVAR Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 28332779

2017
dbSNP: rs199952377
rs199952377
WDR35
C 0.700 CausalMutation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204

2015
dbSNP: rs371669862
rs371669862
WDR35
T 0.700 GeneticVariation CLINVAR Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 25914204

2015
dbSNP: rs371669862
rs371669862
WDR35
T 0.700 GeneticVariation CLINVAR Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. 25908617

2015
dbSNP: rs746128772
rs746128772
WDR35
T 0.700 GeneticVariation CLINVAR Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. 25908617

2015
dbSNP: rs199952377
rs199952377
WDR35
C 0.700 CausalMutation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404

2013
dbSNP: rs371669862
rs371669862
WDR35
T 0.700 GeneticVariation CLINVAR Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 22486404

2013
dbSNP: rs371669862
rs371669862
WDR35
T 0.700 GeneticVariation CLINVAR Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986

2011
dbSNP: rs1327489348
rs1327489348
WDR35
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1553317813
rs1553317813
WDR35
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553324519
rs1553324519
WDR35
T 0.700 CausalMutation CLINVAR

dbSNP: rs199840434
rs199840434
WDR35
A 0.700 CausalMutation CLINVAR

dbSNP: rs387907085
rs387907085
WDR35
A 0.700 CausalMutation CLINVAR

dbSNP: rs767751856
rs767751856
WDR35
A 0.700 CausalMutation CLINVAR