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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 6 | 162201165 | missense variant | C/T | snv | 7.1E-02 | 5.3E-02 |
|
0.050 | 1.000 | 5 | 1999 | 2020 | |||||||
|
0.925 | 0.120 | 6 | 161386823 | missense variant | C/G;T | snv | 0.16; 3.2E-05 |
|
0.030 | 0.667 | 3 | 2003 | 2020 | ||||||||
|
0.925 | 0.120 | 6 | 161548873 | missense variant | C/T | snv | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 6 | 161973317 | missense variant | G/A;C;T | snv | 3.7E-04; 4.0E-06; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2017 | ||||||||
|
0.882 | 0.120 | 6 | 161973401 | missense variant | C/T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2002 | 2002 | ||||||||
|
0.827 | 0.080 | 6 | 162443428 | missense variant | T/A | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.851 | 0.040 | 6 | 161360193 | missense variant | C/T | snv | 2.5E-02 | 2.5E-02 |
|
0.020 | 1.000 | 2 | 2002 | 2010 | |||||||
|
0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 |
|
0.720 | 0.500 | 2 | 2015 | 2020 | ||||||||
|
0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2018 | ||||||||
|
0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 |
|
0.020 | 0.500 | 2 | 2015 | 2020 | ||||||||
|
0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 |
|
0.020 | 0.500 | 2 | 2015 | 2020 | ||||||||
|
0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 |
|
0.720 | 1.000 | 2 | 1998 | 2013 | ||||||||
|
0.925 | 0.040 | 6 | 161785793 | missense variant | C/G | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 162054128 | missense variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 6 | 162728023 | 5 prime UTR variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
0.882 | 0.120 | 6 | 162728023 | 5 prime UTR variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
0.925 | 0.120 | 6 | 161548873 | missense variant | C/T | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 6 | 162721570 | intron variant | T/C | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 6 | 162721570 | intron variant | T/C | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 6 | 162721570 | intron variant | T/C | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 161548929 | synonymous variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 6 | 161360092 | synonymous variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.040 | 6 | 161569370 | missense variant | A/C;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 6 | 161350185 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 6 | 161350185 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |