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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 6 | 29666235 | missense variant | A/G;T | snv | 0.95; 4.1E-06 | 0.040 | 1.000 | 4 | 1997 | 2020 | ||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.882 | 0.120 | 6 | 29666226 | missense variant | G/C | snv | 0.22 | 0.19 | 0.050 | 1.000 | 5 | 2002 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 29670324 | missense variant | T/A;C | snv | 5.7E-04; 2.8E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.030 | 0.333 | 3 | 2003 | 2018 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||
|
1 | 1.000 | 0.080 | 1 | 198703360 | missense variant | A/C;G | snv | 5.3E-04; 1.2E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 1 | 198702524 | missense variant | A/G | snv | 4.3E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.080 | 15 | 39582202 | missense variant | G/C | snv | 6.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.050 | 0.600 | 5 | 2004 | 2015 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2004 | 2011 | |||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 1.000 | 0.080 | 21 | 44910354 | missense variant | G/A;C | snv | 2.4E-05; 1.6E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.900 | 10 | 2005 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.900 | 10 | 2005 | 2018 | ||||
|
5 | 0.827 | 0.200 | 1 | 28150351 | missense variant | G/T | snv | 8.0E-03 | 2.5E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 0.857 | 7 | 2006 | 2019 | |||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.040 | 0.750 | 4 | 2006 | 2019 | |||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.040 | 1.000 | 4 | 2006 | 2010 | ||||
|
1 | 1.000 | 0.080 | 22 | 33006858 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 22 | 33007293 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |