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 | 6 | 6742916 | upstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
4 | 12 | 53948900 | downstream gene variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||
|
2 | 22 | 35264882 | missense variant | G/C;T | snv | 8.0E-06; 0.58 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 12 | 93698914 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
3 | 9 | 111150273 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 17 | 70450720 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 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 | 8 | 127322655 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
2 | 2 | 111496274 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 11 | 823586 | missense variant | C/G;T | snv | 8.9E-03; 8.3E-06 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
4 | 3 | 12447843 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
2 | 20 | 46900932 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 1 | 119006795 | TF binding site variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||||
|
2 | 1 | 205161285 | missense variant | A/G;T | snv | 0.93 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 14 | 68682711 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 11 | 8636938 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||||
|
2 | 11 | 64237251 | intron variant | G/A;C;T | snv | 3.6E-05; 3.7E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
5 | 6 | 139510620 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 6 | 126010842 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 6 | 14595642 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 10 | 62122923 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 2 | 12933841 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 11 | 130401752 | intron variant | A/G;T | snv | 0.71 | 0.700 | 1.000 | 2 | 2018 | 2019 |