Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 133394232 | synonymous variant | C/A;G;T | snv | 9.2E-06; 9.2E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 198706883 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
4 | 86701433 | missense variant | A/C | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
12 | 68808835 | intron variant | T/A | snv | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 9527876 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 27879373 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
4 | 69096731 | missense variant | G/A;C;T | snv | 1.6E-05; 1.6E-05; 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||||
|
1 | 58782620 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
15 | 40718820 | missense variant | G/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 32976634 | missense variant | G/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||||
|
7 | 99768470 | missense variant | G/C | snv | 7.6E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
6 | 36684171 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
16 | 89752163 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||||
|
3 | 11313353 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
10 | 31520321 | missense variant | G/A | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 112838427 | missense variant | A/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||||
|
6 | 30898263 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
17 | 18333280 | missense variant | C/T | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 128287066 | intron variant | G/A | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 47960120 | missense variant | C/T | snv | 9.7E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
7 | 99766440 | stop gained | G/A;T | snv | 6.4E-05 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 93905912 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 214745749 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 55172999 | missense variant | A/C;G | snv | 4.0E-05 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
19 | 54982636 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-04 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 |