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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 4 | 54528005 | intergenic variant | C/T | snv | 0.18 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
7 | 20 | 57415349 | regulatory region variant | T/C | snv | 0.58 | 0.700 | 1.000 | 3 | 2012 | 2018 | ||||||
|
2 | 4 | 54541595 | intergenic variant | C/G | snv | 0.17 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||||
|
10 | 4 | 54542832 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
5 | 2 | 62296430 | TF binding site variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
6 | 6 | 139519556 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
5 | 6 | 139512875 | intron variant | T/G | snv | 0.57 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||||
|
4 | 6 | 139518286 | intron variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2009 | 2017 | |||||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
5 | 6 | 139514552 | intron variant | C/T | snv | 0.51 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
4 | 7 | 93053295 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||
|
2 | 19 | 18526808 | upstream gene variant | C/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 12 | 4223312 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 117708521 | regulatory region variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 4139451 | upstream gene variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 17 | 39590106 | intergenic variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 103541163 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 247882970 | downstream gene variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 6 | 31267969 | downstream gene variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 6 | 34276355 | intron variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 4222106 | intergenic variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 6 | 25933704 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 15 | 31261168 | intergenic variant | G/C | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 196176059 | intergenic variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 |