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.
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.925 0.120 17 18149489 frameshift variant ACAG/- delins 1.3E-04 0.700 0
Deafness, Autosomal Recessive 3
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
69 0.925 0.120 17 18149489 frameshift variant ACAG/- delins 1.3E-04 0.700 0