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.
Absent inner and outer dynein arms
CUI: C4022986
Disease: Absent inner and outer dynein arms
2 1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 0.700 0
Ciliary Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
402 1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 0.700 0
Dynein arm defect of respiratory motile cilia
CUI: C4022990
Disease: Dynein arm defect of respiratory motile cilia
2 1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 0.700 0
Situs inversus totalis
CUI: C4551493
Disease: Situs inversus totalis
8 1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 0.700 0