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 | 0.100 | 0.882 | 17 | 1998 | 2020 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.100 | 0.929 | 14 | 2000 | 2010 | |||
|
4 | 0.882 | 0.200 | 17 | 34320812 | missense variant | A/C | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.040 | 1.000 | 4 | 2004 | 2019 | |||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 16 | 27363054 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
13 | 0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.050 | 1.000 | 5 | 2007 | 2019 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.020 | 1.000 | 2 | 2007 | 2010 | |||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 2 | 8802958 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.040 | 1.000 | 4 | 2008 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2016 | |||
|
7 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.827 | 0.200 | 7 | 100641071 | missense variant | G/A;C | snv | 4.2E-06; 8.3E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
12 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.776 | 0.360 | 1 | 11046609 | missense variant | T/C | snv | 2.1E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
11 | 0.752 | 0.320 | 2 | 118078449 | regulatory region variant | C/G | snv | 0.70 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
12 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
12 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |