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 | 1 | 2569899 | downstream gene variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 186906327 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 1 | 67200769 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.040 | 1 | 67242007 | intron variant | G/A | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1 | 89839786 | intron variant | G/A | snv | 1.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 113586470 | intron variant | A/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.200 | 1 | 160882036 | missense variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1 | 160884736 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.040 | 1 | 197662011 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 1 | 212668592 | upstream gene variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 70529879 | upstream gene variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 155260340 | synonymous variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1 | 92088726 | missense variant | G/A | snv | 2.0E-02 | 2.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.160 | 1 | 22373858 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 7961913 | 5 prime UTR variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 200905101 | intron variant | G/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 |