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 | 18 | 38584120 | intergenic variant | C/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 144749719 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 1770997 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 47929801 | regulatory region variant | C/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 68552021 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 124342130 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 3041036 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 4 | 122904764 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 5 | 78155004 | intron variant | G/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 2 | 204517128 | intergenic variant | C/G | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 22268202 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 14 | 25458626 | intergenic variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 14 | 21074607 | missense variant | A/G | snv | 0.16 | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 15 | 85732769 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 30015427 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 93574480 | 3 prime UTR variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 7 | 121145010 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 111496274 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 128810270 | intergenic variant | T/C | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 102796618 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 8 | 77226098 | intergenic variant | T/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 19 | 55482069 | missense variant | G/T | snv | 1.4E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |