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: rs387907092
rs387907092
CCDC40
1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2011 2011
dbSNP: rs387907092
rs387907092
CCDC40
1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		0.700 0