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 | 11 | 10275289 | intron variant | G/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 11077129 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
13 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 4 | 148207444 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 4 | 148211605 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 155122631 | downstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
8 | 0.827 | 0.160 | 10 | 16877053 | missense variant | T/C;G | snv | 8.9E-02; 8.0E-06 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||
|
3 | 1.000 | 0.080 | 10 | 16890385 | missense variant | G/A;T | snv | 1.3E-02; 4.0E-06 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 10 | 16925418 | missense variant | T/C | snv | 5.6E-03 | 5.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 10 | 16929427 | intron variant | C/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 16950012 | missense variant | G/A | snv | 1.7E-03 | 1.5E-03 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 10 | 16963744 | intron variant | G/A | snv | 1.7E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 170309619 | downstream gene variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 171454028 | intergenic variant | G/A | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 4 | 189807855 | intron variant | C/T | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 189848068 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 200289967 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 202850250 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 207024356 | intergenic variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 2 | 225820170 | intergenic variant | C/T | snv | 1.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 226120788 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 227011971 | intron variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 227647210 | intron variant | T/C | snv | 3.9E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 |