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
|
10 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
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
|
3 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
Low set ears
|
64 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
Mitochondrial Diseases
|
84 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
Orbital separation excessive
|
77 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
Premature Birth
|
50 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
Ulnar polydactyly of fingers
|
11 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
Wide spaced nipples
|
19 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 0 | |||||||||
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
|
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
|
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
|
3 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2005 | 2007 | ||||||
Childhood Osteosarcoma
|
151 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
MELAS Syndrome
|
53 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Osteosarcoma
|
178 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Osteosarcoma of bone
|
151 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Ataxia
|
68 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |