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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.780 | 1.000 | 8 | 2001 | 2019 | |||
|
12 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 0.060 | 1.000 | 6 | 2005 | 2019 | |||||
|
4 | 0.925 | 0.080 | 15 | 63059663 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2016 | 2018 | |||||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.050 | 0.800 | 5 | 2009 | 2019 | |||||
|
5 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 0.710 | 1.000 | 3 | 2002 | 2010 | |||||
|
4 | 0.925 | 0.040 | 5 | 156595000 | missense variant | T/G | snv | 2.0E-04 | 1.3E-04 | 0.020 | 0.500 | 2 | 2009 | 2014 | |||
|
7 | 0.851 | 0.160 | 2 | 219425727 | missense variant | C/A;G;T | snv | 6.5E-05; 5.6E-04 | 0.020 | 1.000 | 2 | 2003 | 2008 | ||||
|
10 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2018 | 2020 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | < 0.001 | 2 | 1997 | 1999 | ||||
|
3 | 0.925 | 3 | 148996462 | missense variant | G/C | snv | 1.0E-03 | 1.1E-03 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 0.500 | 2 | 1998 | 2001 | |||
|
2 | 1.000 | 0.080 | 7 | 151564203 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
6 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | < 0.001 | 2 | 1997 | 1999 | |||
|
1 | 12 | 21887879 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.882 | 0.040 | 11 | 19188245 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.790 | 0.120 | 19 | 55154146 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 201365657 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.040 | 1 | 15972817 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.827 | 0.240 | 15 | 89320883 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |