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.
Cleft palate and bilateral cleft lip
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
10 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Flexion contracture of proximal interphalangeal joint
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
7 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Hypoplasia of scrotum
CUI: C0431659
Disease: Hypoplasia of scrotum
3 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Ulnar polydactyly of fingers
CUI: C0431904
Disease: Ulnar polydactyly of fingers
11 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.742 0.320 MT 8993 missense variant T/C;G snv 0.800 1.000 10 1990 2007
Neuropathy ataxia and retinis pigmentosa
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
2 0.742 0.320 MT 8993 missense variant T/C;G snv 0.800 1.000 5 1990 1994
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
CUI: C1838916
Disease: ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
1 0.742 0.320 MT 8993 missense variant T/C;G snv 0.800 1.000 2 2005 2007
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
3 0.742 0.320 MT 8993 missense variant T/C;G snv 0.800 1.000 2 2005 2007
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
151 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 1.000 1 2016 2016