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 | 15 | 74035775 | missense variant | A/C;G | snv | 0.52 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1 | 218432267 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 12 | 26318431 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 12 | 54027692 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 9 | 95648123 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 8116712 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 131285034 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 2 | 66544868 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 22 | 20154990 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 3 | 72406204 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 138385085 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 2 | 187251469 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 12 | 53948900 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 28034610 | non coding transcript exon variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 219479453 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 17 | 70511295 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 61193420 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 67516476 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 138389241 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 3 | 12447843 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 3 | 68477984 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 20 | 6632185 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |