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 | 5 | 56735995 | regulatory region variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 142669182 | upstream gene variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 142681397 | upstream gene variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.120 | 16 | 27310774 | upstream gene variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 7 | 142847457 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 142649362 | downstream gene variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.080 | 6 | 36589803 | upstream gene variant | C/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 49400273 | intron variant | C/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
16 | 0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 7 | 142784320 | upstream gene variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.120 | 8 | 16066997 | intergenic variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
20 | 0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.851 | 0.080 | 4 | 174540379 | non coding transcript exon variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 17 | 49390785 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
9 | 0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 21 | 34300618 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 34318199 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 34329783 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 34344072 | intron variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.882 | 0.080 | 5 | 1299910 | upstream gene variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.851 | 0.120 | 20 | 41322165 | upstream gene variant | A/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | 15 | 23463380 | intergenic variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 17 | 49278661 | intron variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
18 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 |