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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.925 | 0.160 | 3 | 36958902 | TF binding site variant | G/A | snv | 9.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
23 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 2005 | 2017 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2005 | 2017 | |||
|
3 | 0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.160 | 5 | 112837812 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.160 | 5 | 112838286 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
21 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.957 | 23 | 2004 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.957 | 23 | 2004 | 2019 | |||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.030 | 1.000 | 3 | 2011 | 2013 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.160 | 2 | 47385165 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 39 | 1996 | 2013 | ||||
|
7 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 25 | 1999 | 2014 | ||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.720 | 0.947 | 19 | 1995 | 2014 | |||||
|
5 | 0.882 | 0.200 | 3 | 37047632 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 16 | 1997 | 2018 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.720 | 1.000 | 15 | 1975 | 2017 | |||||
|
8 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 0.700 | 1.000 | 14 | 1992 | 2016 | |||||
|
6 | 0.851 | 0.240 | 3 | 37048973 | missense variant | C/A;G;T | snv | 1.2E-05; 2.0E-05 | 0.700 | 1.000 | 13 | 2002 | 2017 |