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 0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 0.700 1.000 2 1999 2005
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 0.700 1.000 1 1995 1995
DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
CUI: C3151975
Disease: DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
1 0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 0.700 0
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
CUI: C4016626
Disease: MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
2 0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 0.700 0