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.
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 2 2001 2004
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 1 1999 1999
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 1 2001 2001
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
Cyclical vomiting syndrome (disorder)
CUI: C0152164
Disease: Cyclical vomiting syndrome (disorder)
4 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
Cytochrome-c Oxidase Deficiency
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
44 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
Diabetes-deafness syndrome maternally transmitted (disorder)
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
5 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
MERRF Syndrome
CUI: C0162672
Disease: MERRF Syndrome
13 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
MERRF/MELAS OVERLAP SYNDROME
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
5 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
MUSCLE STIFFNESS, PAINFUL
CUI: C1838818
Disease: MUSCLE STIFFNESS, PAINFUL
1 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0