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.
CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
CUI: C4016628
Disease: CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
1 0.925 0.200 MT 12258 non coding transcript exon variant C/A snv 0.700 0
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.925 0.200 MT 12258 non coding transcript exon variant C/A snv 0.700 0