Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907021
rs387907021
DNAL1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs876657637
rs876657637
DNAL1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787

2011