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, 7 (disorder)
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
14 1.000 0.160 7 21901225 stop lost GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- delins 0.700 0
Ciliary Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
402 1.000 0.160 7 21901225 stop lost GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- delins 0.700 0