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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 159598058 | upstream gene variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 96023656 | downstream gene variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 95782279 | non coding transcript exon variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 98710740 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 1 | 69322799 | intergenic variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 43674404 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 199322594 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 243258102 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 244286121 | intergenic variant | A/G;T | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 216514743 | intron variant | G/A;C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 65807607 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 181543317 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 182052669 | downstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 177790510 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 163782298 | intergenic variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 90727492 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 6769888 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 58217139 | intron variant | T/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 65773804 | regulatory region variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 65804253 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 65944426 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 73517390 | intergenic variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 156511039 | non coding transcript exon variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 159430569 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 72461657 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |