Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | MT | 8344 | non coding transcript exon variant | A/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | MT | 8344 | non coding transcript exon variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | MT | 8356 | non coding transcript exon variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | MT | 8356 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | MT | 8363 | non coding transcript exon variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | MT | 8363 | non coding transcript exon variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | MT | 8313 | non coding transcript exon variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | MT | 8342 | non coding transcript exon variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | MT | 10438 | non coding transcript exon variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | MT | 9997 | non coding transcript exon variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
MT | 10010 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.080 | MT | 8087 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | MT | 8839 | missense variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | MT | 8418 | protein altering variant | -/ATA | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | MT | 8431 | inframe insertion | -/CCA | ins |
|
0.700 | 0 | |||||||||||||
|
MT | 8560 | inframe insertion | -/CAC | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.040 | MT | 8750 | protein altering variant | -/AAA | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | MT | 9273 | protein altering variant | -/ATC | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | MT | 9311 | inframe insertion | -/GCA | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | MT | 9429 | protein altering variant | -/CCC | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | MT | 9431 | frameshift variant | -/A | ins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | MT | 9441 | inframe insertion | -/TTT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | MT | 10664 | synonymous variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
0.700 | 0 |