Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502829
rs1060502829
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1233603821
rs1233603821
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs139519641
rs139519641
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		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
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		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: rs1555519999
rs1555519999
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555526915
rs1555526915
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs1555527001
rs1555527001
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR

dbSNP: rs267607225
rs267607225
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 19944400

2009
dbSNP: rs267607227
rs267607227
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs745495583
rs745495583
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		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: rs748869874
rs748869874
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs758650222
rs758650222
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs761851970
rs761851970
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs762843285
rs762843285
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs764066045
rs764066045
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR

dbSNP: rs786205052
rs786205052
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		TG 0.700 CausalMutation CLINVAR