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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.851 | 0.120 | X | 154432444 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 5 | 128178664 | frameshift variant | GTCTGGTGGCT/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 0.030 | 1.000 | 3 | 1992 | 1998 | ||||
|
6 | 0.807 | 0.160 | 7 | 117540230 | missense variant | C/T | snv | 5.6E-05 | 9.1E-05 | 0.020 | 1.000 | 2 | 1992 | 1995 | |||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
15 | 0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 | 0.020 | 1.000 | 2 | 1992 | 1996 | |||
|
13 | 0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 | 0.020 | 1.000 | 2 | 1992 | 1992 | ||||
|
8 | 0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 | 0.020 | 1.000 | 2 | 1992 | 1995 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
25 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.160 | 7 | 117590394 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 2 | 88588014 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.200 | 2 | 218395091 | 3 prime UTR variant | TGTG/- | del | 8.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 5 | 497509 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 7 | 117531068 | missense variant | T/A;C | snv | 1.8E-03 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
4 | 0.851 | 0.120 | 13 | 27924382 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 7 | 117627753 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.827 | 0.200 | 7 | 117614699 | missense variant | G/C | snv | 4.0E-04 | 3.2E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
10 | 0.763 | 0.280 | 7 | 117509123 | missense variant | G/A;T | snv | 4.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.160 | 7 | 117559548 | stop gained | C/T | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
4 | 0.851 | 0.160 | 7 | 117559629 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
18 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
4 | 0.851 | 0.160 | 7 | 117559509 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 1992 | 1992 |