Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139519641
rs139519641
A 0.700 GeneticVariation CLINVAR Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 19944400

2009

dbSNP: rs139519641
rs139519641
A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. 19944405

2009

dbSNP: rs267607225
rs267607225
T 0.700 CausalMutation CLINVAR Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 19944400

2009

dbSNP: rs745495583
rs745495583
A 0.700 CausalMutation CLINVAR Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. 19944405

2009

dbSNP: rs1060502829
rs1060502829
T 0.700 CausalMutation CLINVAR

dbSNP: rs1233603821
rs1233603821
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555519999
rs1555519999
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555526915
rs1555526915
CA 0.700 CausalMutation CLINVAR

dbSNP: rs1555527001
rs1555527001
C 0.700 CausalMutation CLINVAR

dbSNP: rs267607227
rs267607227
G 0.700 CausalMutation CLINVAR

dbSNP: rs748869874
rs748869874
T 0.700 CausalMutation CLINVAR

dbSNP: rs758650222
rs758650222
G 0.700 CausalMutation CLINVAR

dbSNP: rs761851970
rs761851970
G 0.700 GeneticVariation CLINVAR

dbSNP: rs762843285
rs762843285
G 0.700 CausalMutation CLINVAR

dbSNP: rs764066045
rs764066045
C 0.700 CausalMutation CLINVAR

dbSNP: rs786205052
rs786205052
TG 0.700 CausalMutation CLINVAR