rs863223325, CCDC65

N. diseases: 3
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ciliary Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
402 0.925 0.160 12 48918751 frameshift variant AT/- delins 0.700 1.000 3 2013 2015
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
67 0.925 0.160 12 48918751 frameshift variant AT/- delins 0.700 0
CILIARY DYSKINESIA, PRIMARY, 27
CUI: C3809701
Disease: CILIARY DYSKINESIA, PRIMARY, 27
2 0.925 0.160 12 48918751 frameshift variant AT/- delins 0.700 0