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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.080 | 17 | 15239575 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 1998 | 1999 | |||||
|
4 | 0.882 | 0.160 | 17 | 15230951 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.851 | 0.120 | 1 | 161307308 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
7 | 0.925 | 0.240 | 22 | 50523994 | missense variant | C/T | snv | 8.0E-05 | 1.1E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.882 | 0.080 | 19 | 40396207 | stop gained | A/T | snv | 8.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.080 | X | 71223852 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
9 | 0.827 | 0.120 | 17 | 15231047 | missense variant | G/A | snv | 4.0E-03 | 3.7E-03 | 0.030 | 1.000 | 3 | 2003 | 2011 | |||
|
4 | 0.925 | 0.080 | 8 | 24953776 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2004 | 2015 | |||||
|
5 | 0.851 | 0.120 | 19 | 40395144 | stop gained | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.882 | 0.080 | 1 | 10258602 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.040 | 0.500 | 4 | 2006 | 2013 | |||
|
5 | 0.851 | 0.080 | 1 | 161306864 | missense variant | G/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.882 | 0.120 | 1 | 161307376 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.040 | 3 | 158669595 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.240 | 14 | 50628394 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 12 | 2008 | 2020 | ||||
|
7 | 0.851 | 0.160 | 16 | 56609431 | 3 prime UTR variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 16 | 56639236 | intron variant | A/G | snv | 0.71 | 0.67 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
3 | 0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.080 | 19 | 49830790 | missense variant | C/T | snv | 3.8E-03 | 4.3E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.080 | 19 | 10793799 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2019 | |||
|
5 | 0.851 | 0.080 | 8 | 74362940 | stop gained | C/G | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 |