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 16
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
11 1.000 0.120 15 43601533 stop gained C/A;T snv 1.2E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.120 15 43601533 stop gained C/A;T snv 1.2E-05 0.700 0