rs387907092, CCDC40

N. diseases: 2
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 Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
402 1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
CILIARY DYSKINESIA, PRIMARY, 15
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
6 1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06 0.700 0