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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1 | 155018913 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
11 | 6 | 43790159 | downstream gene variant | C/A | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
4 | 1 | 172377408 | intron variant | G/A | snv | 0.46 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||||
|
1 | 5 | 142698150 | upstream gene variant | A/G | snv | 0.22 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 22 | 35264882 | missense variant | G/C;T | snv | 8.0E-06; 0.58 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 7 | 25831489 | non coding transcript exon variant | C/T | snv | 0.16 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||
|
1 | 12 | 93698914 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 10 | 3539029 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 1 | 119004219 | upstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 9 | 111150273 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 15 | 41780332 | intron variant | C/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
4 | 0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 10 | 93587048 | intron variant | G/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 6 | 34224259 | downstream gene variant | C/A | snv | 2.5E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 17 | 70450720 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 4 | 124299553 | intergenic variant | A/C | snv | 0.30 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 5 | 133076607 | intron variant | A/G | snv | 0.21 | 0.21 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 8 | 25607174 | intron variant | G/T | snv | 0.49 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 15 | 62142957 | regulatory region variant | T/C | snv | 0.32 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 0.925 | 0.200 | 19 | 2176587 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 19 | 18278325 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 3 | 33831295 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 9 | 109210391 | intron variant | T/A | snv | 0.15 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 2 | 9558061 | upstream gene variant | T/C | snv | 0.63 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.080 | 17 | 17640408 | regulatory region variant | G/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2018 | 2019 |