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, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
8 0.925 0.280 MT 7511 non coding transcript exon variant T/C snv 0.700 1.000 1 1999 1999
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.925 0.280 MT 7511 non coding transcript exon variant T/C snv 0.700 1.000 1 1999 1999