rs745993158, CCDC40

N. diseases: 1
Source: ALL
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 Dyskinesia, Primary, 1, With Or Without Situs Inversus
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
67 1.000 0.160 17 80082059 splice donor variant G/A snv 4.0E-06 0.700 0