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 Dominant 20
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
10 1.000 0.120 17 81511626 missense variant T/C snv 0.700 1.000 7 2003 2014
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.120 17 81511626 missense variant T/C snv 0.010 1.000 1 2008 2008