Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752924362
rs752924362
DNAI2
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884

2015
dbSNP: rs752924362
rs752924362
DNAI2
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
dbSNP: rs752924362
rs752924362
DNAI2
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013