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.
Deafness, Autosomal Recessive 3
CUI: C1838263
Disease: Deafness, Autosomal Recessive 3
69 0.925 0.120 17 18126856 missense variant T/C snv 0.700 0
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
66 0.925 0.120 17 18126856 missense variant T/C snv 0.700 0