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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 20 | 7125642 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 116801535 | downstream gene variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 5 | 428121 | intron variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.807 | 0.280 | 17 | 4632019 | missense variant | G/A | snv | 2.7E-02 | 1.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 7 | 36643290 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
1 | 1.000 | 0.080 | 2 | 86791424 | 5 prime UTR variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
15 | 0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
4 | 0.882 | 0.200 | 5 | 13793709 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.160 | 15 | 48487333 | missense variant | G/A;C | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
11 | 0.742 | 0.400 | 1 | 161626196 | missense variant | C/A;G;T | snv | 1.5E-03; 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 8 | 38421872 | missense variant | C/A;T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2000 | 2011 | ||||
|
8 | 0.776 | 0.200 | 8 | 38424690 | missense variant | G/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 1997 | 2000 | ||||
|
3 | 0.882 | 0.080 | 8 | 38419718 | missense variant | C/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2002 | ||||
|
1 | 1.000 | 0.080 | 8 | 38419732 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2017 | ||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.040 | 1.000 | 4 | 1999 | 2014 | |||||
|
9 | 0.807 | 0.120 | 10 | 121517460 | missense variant | C/A;T | snv | 2.4E-05 | 0.030 | 1.000 | 3 | 2000 | 2004 | ||||
|
1 | 1.000 | 0.080 | 10 | 121498597 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
6 | 0.807 | 0.080 | 10 | 121520050 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.080 | 10 | 121496701 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 121485399 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |