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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 8 | 19946291 | intron variant | A/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 14482917 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 16 | 56965346 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 17 | 10033485 | intron variant | A/C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 172380106 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 51969287 | 3 prime UTR variant | A/C | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 9 | 21499625 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 1 | 39562508 | non coding transcript exon variant | A/C;G | snv | 0.800 | 1.000 | 5 | 2010 | 2018 | |||||||
|
6 | 18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||||
|
4 | 15 | 43434427 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 16 | 67983453 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
3 | 1 | 230169242 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 7 | 130761118 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 12 | 109471206 | missense variant | A/C;G | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 11 | 102799093 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 4 | 142395874 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 16 | 68375532 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
15 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 2 | 226234818 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 3 | 121941817 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 16 | 56980963 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
6 | 0.882 | 0.160 | 16 | 72054562 | 5 prime UTR variant | A/C;G | snv | 7.9E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 4 | 156813523 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.080 | 19 | 44952664 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 9 | 120868947 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |