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 | 0.925 | 0.040 | X | 123307628 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | X | 38140399 | intron variant | A/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.060 | 0.667 | 6 | 2001 | 2017 | |||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 21 | 33015144 | intron variant | G/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 20 | 62709682 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 18 | 75338379 | intergenic variant | G/A | snv | 9.7E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.120 | 16 | 67483042 | missense variant | C/T | snv | 3.2E-02 | 2.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
2 | 0.925 | 0.040 | 16 | 67486220 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 15 | 88059610 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 14 | 64227600 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
2 | 0.925 | 0.040 | 12 | 61858476 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 0.925 | 0.080 | 12 | 72010598 | intron variant | C/A;T | snv | 0.81 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 71983532 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 127200688 | intron variant | T/C | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.160 | 12 | 56075401 | upstream gene variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.080 | 0.875 | 8 | 2004 | 2016 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.080 | 0.875 | 8 | 2004 | 2016 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 11 | 115226236 | intron variant | A/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 99982441 | intron variant | A/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2009 | 2009 |