Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555531363
rs1555531363
T 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412

2017

dbSNP: rs746068882
rs746068882
A 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412

2017

dbSNP: rs762771340
rs762771340
A 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412

2017

dbSNP: rs752659088
rs752659088
A 0.700 GeneticVariation CLINVAR