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 | 1.000 | 0.040 | 1 | 10765520 | intron variant | C/T | snv | 0.49 | 0.710 | 1.000 | 3 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.120 | 5 | 158803005 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 0.925 | 0.080 | 20 | 51538108 | intron variant | T/G | snv | 0.18 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 181839213 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 17 | 72032304 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 26816458 | intergenic variant | G/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 68262089 | upstream gene variant | G/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 88769137 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 128188326 | 3 prime UTR variant | T/C | snv | 0.83 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 47793818 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
4 | 1.000 | 0.040 | 6 | 26267527 | downstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 1.000 | 0.040 | 6 | 29969778 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 15 | 95638837 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 13 | 105611734 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 118353076 | intron variant | T/C | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 68247656 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 2 | 30247312 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 31373131 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 70221330 | intergenic variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 17 | 70239784 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 77000910 | intergenic variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 16 | 74581679 | intron variant | G/A | snv | 5.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 19 | 48710027 | downstream gene variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 8 | 86583362 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 115534550 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |