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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.900 | 0.976 | 248 | 1996 | 2019 | |||
|
8 | 0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 | 0.810 | 1.000 | 18 | 1996 | 2008 | ||||
|
2 | 0.925 | 0.080 | 6 | 26091041 | missense variant | G/C | snv | 1.2E-05 | 7.0E-06 | 0.810 | 1.000 | 18 | 1996 | 2008 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.800 | 0.960 | 99 | 1996 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 26093215 | missense variant | G/C;T | snv | 0.800 | 1.000 | 18 | 1996 | 2008 | |||||
|
2 | 0.925 | 0.160 | 6 | 26091354 | missense variant | A/C | snv | 0.800 | 1.000 | 18 | 1996 | 2008 | |||||
|
1 | 1.000 | 0.080 | 6 | 26091078 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 18 | 1996 | 2008 | |||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.760 | 0.857 | 7 | 1999 | 2012 | |||
|
2 | 0.925 | 0.080 | 6 | 26091475 | stop gained | G/C;T | snv | 4.5E-04 | 0.710 | 1.000 | 2 | 2000 | 2002 | ||||
|
5 | 0.827 | 0.200 | 6 | 26092952 | missense variant | T/C | snv | 8.4E-04 | 5.6E-04 | 0.700 | 1.000 | 18 | 1996 | 2008 | |||
|
1 | 1.000 | 0.080 | 6 | 26087458 | missense variant | G/C | snv | 6.9E-04 | 7.0E-04 | 0.700 | 1.000 | 18 | 1996 | 2008 | |||
|
15 | 0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.240 | 6 | 26091479 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 6 | 26090839 | splice acceptor variant | AGGT/TGGAGTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 26090960 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 35285003 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.090 | 0.889 | 9 | 2001 | 2017 | |||||
|
12 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 0.030 | 1.000 | 3 | 2001 | 2003 | ||||
|
12 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2003 | ||||
|
12 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2003 | ||||
|
5 | 0.827 | 0.200 | 1 | 231272345 | missense variant | A/G;T | snv | 0.16 | 0.020 | 0.500 | 2 | 2017 | 2017 | ||||
|
10 | 0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
6 | 0.807 | 0.240 | 6 | 29942870 | missense variant | G/C;T | snv | 0.020 | 1.000 | 2 | 1998 | 2002 | |||||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
4 | 0.851 | 0.080 | 2 | 189571799 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 |