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 | 11 | 13272293 | upstream gene variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 0.882 | 0.320 | 16 | 89280070 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 11022400 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
5 | 0.925 | 0.040 | 1 | 110603893 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.851 | 0.240 | 1 | 145912346 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 11 | 18358030 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
6 | 0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
22 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
15 | 0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 4 | 69113183 | downstream gene variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 69094762 | intron variant | T/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 69094669 | intron variant | C/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
18 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 12 | 51806336 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 12 | 101642495 | missense variant | G/A;C | snv | 3.2E-05 | 0.700 | 0 | |||||||||
|
7 | 0.882 | 0.040 | 19 | 29702966 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 4 | 69107231 | synonymous variant | C/G | snv | 0.56 | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
52 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |