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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 4 | 47320173 | missense variant | T/C;G | snv | 0.99; 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.040 | 2 | 166036278 | missense variant | C/T | snv | 0.73 | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 5 | 161895883 | non coding transcript exon variant | G/A | snv | 0.62 | 0.63 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.500 | 4 | 2006 | 2014 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.200 | 1 | 53210776 | missense variant | G/A | snv | 0.49 | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
20 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.742 | 0.240 | 5 | 162101274 | synonymous variant | C/T | snv | 0.28 | 0.31 | 0.040 | 0.750 | 4 | 2010 | 2018 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
6 | 0.827 | 0.160 | 1 | 160041722 | missense variant | G/A | snv | 4.6E-02 | 4.7E-02 | 0.020 | 1.000 | 2 | 2005 | 2013 | |||
|
8 | 0.827 | 0.200 | 1 | 53210729 | missense variant | T/G | snv | 2.3E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1 | 160042480 | missense variant | C/T | snv | 1.2E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.240 | 16 | 16202006 | missense variant | T/C | snv | 5.6E-03 | 4.7E-03 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.851 | 0.080 | 20 | 63414174 | missense variant | C/A;G | snv | 2.0E-05; 2.6E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 |