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 | 1.000 | 0.040 | 4 | 178481702 | intergenic variant | T/A | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.040 | 10 | 62637778 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
10 | 0.807 | 0.200 | 15 | 27985172 | missense variant | C/T | snv | 4.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.827 | 0.080 | 16 | 89919436 | missense variant | G/T | snv | 8.6E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.080 | 10 | 49470323 | missense variant | T/C | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.925 | 0.080 | 10 | 49459059 | missense variant | T/C | snv | 0.22 | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.120 | 2 | 47403074 | 5 prime UTR variant | T/C | snv | 0.10 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 9 | 97704354 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.160 | 9 | 95447312 | missense variant | G/A;C;T | snv | 0.39; 1.2E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 7 | 129203437 | missense variant | G/A;T | snv | 1.0E-04; 5.7E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.716 | 0.320 | 17 | 42390192 | upstream gene variant | G/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 12 | 56229563 | 3 prime UTR variant | C/T | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 65862461 | synonymous variant | T/C | snv | 0.57 | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 |