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 | 0.882 | 0.160 | 2 | 102349850 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 5 | 428121 | intron variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 70050466 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.160 | 12 | 117323735 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
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 | 6 | 33312532 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 77132657 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.280 | 7 | 7968245 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 116697595 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 7 | 36643290 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 72266805 | intron variant | T/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 6 | 73174426 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 12 | 117329773 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.160 | 11 | 34812657 | intergenic variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 9 | 106927699 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.200 | 4 | 39225027 | stop gained | C/G | snv | 1.7E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.800 | 0.944 | 18 | 1997 | 2016 | ||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 1.000 | 9 | 1995 | 2014 | ||||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.700 | 1.000 | 7 | 1995 | 2013 | |||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.710 | 0.833 | 6 | 1999 | 2016 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 1.000 | 6 | 1995 | 2015 | ||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.720 | 0.833 | 6 | 1998 | 2011 | ||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 1.000 | 5 | 1996 | 2015 | |||||
|
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 |