Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1349668884
rs1349668884
TNNI3 ; DNAAF3 ; LOC101930593
1.000 0.160 19 55159416 frameshift variant -/T delins
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.700 0
dbSNP: rs1349668884
rs1349668884
TNNI3 ; DNAAF3 ; LOC101930593
1.000 0.160 19 55159416 frameshift variant -/T delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0