Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200488444
rs200488444
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 GeneticVariation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs200488444
rs200488444
DNAI1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		C 0.700 GeneticVariation CLINVAR