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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 1.000 | 0.040 | 7 | 1246931 | regulatory region variant | G/T | snv | 0.51 | 0.700 | 1.000 | 6 | 2016 | 2019 | ||||
|
10 | 1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 | 0.700 | 1.000 | 5 | 2018 | 2019 | ||||
|
6 | 20 | 54115823 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 5 | 2016 | 2019 | ||||||
|
2 | 7 | 155871992 | intergenic variant | C/A;T | snv | 0.40 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 21 | 15204463 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||
|
5 | 20 | 54114863 | intergenic variant | A/T | snv | 0.28 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 8 | 23862058 | TF binding site variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2019 | 2019 | |||||||
|
5 | 1.000 | 0.080 | 8 | 23893638 | regulatory region variant | C/T | snv | 0.37 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 12 | 112115228 | intergenic variant | T/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 1 | 100342807 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 6 | 32612725 | intergenic variant | G/A | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 7 | 1246556 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
10 | 8 | 125465736 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
5 | 10 | 93079885 | downstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 15 | 45349027 | intergenic variant | C/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
9 | 0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 19 | 48711213 | downstream gene variant | T/C | snv | 0.39 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 8 | 23877534 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 9 | 34130437 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 1 | 214571550 | regulatory region variant | T/C | snv | 0.81 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 2 | 15652890 | intergenic variant | G/T | snv | 0.48 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1 | 2 | 15652394 | intergenic variant | T/C | snv | 0.48 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.160 | 2 | 15642347 | regulatory region variant | G/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 5 | 34509720 | regulatory region variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 1245559 | regulatory region variant | A/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2016 | 2016 |