rs587778820, CCDC39

N. diseases: 2
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 1.000 0.120 3 180619334 frameshift variant T/- delins 2.6E-05 1.4E-05 0.700 1.000 2 2011 2016
CILIARY DYSKINESIA, PRIMARY, 14
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
4 1.000 0.120 3 180619334 frameshift variant T/- delins 2.6E-05 1.4E-05 0.700 0