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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 17157671 | intergenic variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 37047903 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 1 | 160837925 | intron variant | T/C | snv | 0.57 | 0.700 | 0 | |||||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.060 | 0.833 | 6 | 1998 | 2017 | ||||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.020 | 1.000 | 2 | 1998 | 1999 | ||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.010 | < 0.001 | 1 | 1999 | 1999 | |||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.030 | 0.667 | 3 | 2000 | 2018 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 1.000 | 2 | 2000 | 2004 | |||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.964 | 28 | 2001 | 2018 | |||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.030 | 1.000 | 3 | 2001 | 2016 | |||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.020 | 1.000 | 2 | 2002 | 2006 | |||
|
26 | 0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 | 0.020 | 1.000 | 2 | 2002 | 2012 | |||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.020 | 0.500 | 2 | 2002 | 2007 | ||||
|
7 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.120 | 20 | 46009878 | missense variant | C/A;T | snv | 1.9E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
9 | 0.776 | 0.240 | 10 | 52771466 | missense variant | C/T | snv | 3.2E-02 | 7.9E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.851 | 0.320 | 12 | 6333835 | missense variant | G/A;C | snv | 5.7E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.851 | 0.320 | 1 | 161624624 | missense variant | G/A;C | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.120 | 10 | 52771542 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.120 | 19 | 852906 | missense variant | G/A | snv | 4.6E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 |