rs397515392, 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 180661860 splice donor variant C/G snv 1.6E-04 7.0E-05 0.700 1.000 3 2011 2013
CILIARY DYSKINESIA, PRIMARY, 14
CUI: C3151136
Disease: CILIARY DYSKINESIA, PRIMARY, 14
4 1.000 0.120 3 180661860 splice donor variant C/G snv 1.6E-04 7.0E-05 0.700 0