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 | 1.000 | 0.040 | 21 | 17270927 | intergenic variant | G/A | snv | 1.00 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 5 | 116352208 | intron variant | C/T | snv | 0.99 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 92393214 | upstream gene variant | C/T | snv | 0.97 | 0.020 | 1.000 | 2 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 5 | 88619764 | intron variant | A/G | snv | 0.97 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 15 | 92392939 | upstream gene variant | C/T | snv | 0.97 | 0.020 | 1.000 | 2 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 3 | 7659884 | intron variant | G/A | snv | 0.96 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 137161424 | splice region variant | G/A | snv | 0.94 | 0.95 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 9 | 109037283 | intron variant | A/C | snv | 0.93 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 22 | 40631815 | intron variant | T/C | snv | 0.93 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 25418866 | intron variant | T/C | snv | 0.93 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 60070442 | intron variant | C/T | snv | 0.92 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.040 | 6 | 40277470 | upstream gene variant | T/C | snv | 0.91 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 131786445 | intron variant | C/G;T | snv | 0.91 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 23584856 | downstream gene variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 151944275 | upstream gene variant | C/A | snv | 0.90 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 7 | 100715797 | upstream gene variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 7 | 45607253 | intron variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 4796871 | downstream gene variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 44010315 | non coding transcript exon variant | T/C | snv | 0.87 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 88201419 | intergenic variant | A/G | snv | 0.87 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 3 | 52783577 | intron variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 113416156 | intron variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 22 | 19972665 | intron variant | T/C | snv | 0.86 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 131913076 | intron variant | C/T | snv | 0.86 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 5 | 51094157 | intergenic variant | G/A | snv | 0.86 | 0.700 | 1.000 | 2 | 2017 | 2019 |