Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 3 | 42273163 | intergenic variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 0.925 | 0.120 | 2 | 622827 | intergenic variant | T/A;C | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.752 | 0.160 | 11 | 27678578 | intron variant | C/T | snv | 0.82 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 1.000 | 0.080 | 2 | 638144 | regulatory region variant | G/T | snv | 0.82 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 18 | 23155497 | intron variant | T/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 18 | 23151966 | intron variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 7 | 76978826 | non coding transcript exon variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 6 | 34231315 | regulatory region variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 59102018 | intron variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 7 | 76980627 | non coding transcript exon variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 4 | 144653692 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 0.851 | 0.080 | 4 | 144647200 | non coding transcript exon variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.040 | 11 | 75565133 | intron variant | A/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 5 | 56521061 | intron variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 7 | 28150327 | intron variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 7 | 28165684 | intron variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 7 | 28167681 | intron variant | G/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 18717009 | intron variant | A/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 14 | 29215315 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 97165897 | intron variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 1.000 | 0.080 | 3 | 186116501 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 14 | 29216122 | intron variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 85007370 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 6 | 104949543 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 |