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: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0
dbSNP: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		0.700 0