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 | 1 | 62596235 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 111119568 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | X | 30707584 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 2 | 181678775 | missense variant | G/C | snv | 5.2E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 9 | 133440318 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 4 | 112432155 | missense variant | G/A;T | snv | 8.5E-03; 2.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 4 | 112432293 | missense variant | A/G | snv | 8.5E-03 | 5.5E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 5225612 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
1 | 1 | 206112629 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1 | 13 | 25530064 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1 | 9 | 133445896 | intron variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 38727881 | intron variant | T/C | snv | 6.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 201389275 | missense variant | C/T | snv | 1.1E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 5 | 1295957 | upstream gene variant | A/G | snv | 0.88 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 187500548 | intergenic variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 17387104 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 | 0.020 | 1.000 | 2 | 2000 | 2002 | |||
|
3 | 1.000 | 0.040 | 21 | 43992991 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 164497436 | missense variant | T/C | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 84822934 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 161802188 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 12 | 63150429 | missense variant | A/C;G;T | snv | 0.60; 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 6 | 139547773 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 2 | 192049636 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 |