Source: ALL

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: rs1555174708
rs1555174708
CCDC65
0.925 12 48916993 frameshift variant A/- del
CUI: C3809701
Disease: CILIARY DYSKINESIA, PRIMARY, 27
CILIARY DYSKINESIA, PRIMARY, 27 		0.700 0
dbSNP: rs863223325
rs863223325
CCDC65
0.925 0.160 12 48918751 frameshift variant AT/- delins
CUI: C3809701
Disease: CILIARY DYSKINESIA, PRIMARY, 27
CILIARY DYSKINESIA, PRIMARY, 27 		0.700 0