Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772686744
rs772686744
DNAI1
C 0.700 CausalMutation CLINVAR DNAI1 mutations explain only 2% of primary ciliary dykinesia. 18434704

2008
dbSNP: rs772686744
rs772686744
DNAI1
C 0.700 CausalMutation CLINVAR Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia. 11713099

2001