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 | 9 | 25233486 | intergenic variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 25268869 | intergenic variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 29521271 | intergenic variant | G/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.882 | 0.040 | 3 | 16598169 | missense variant | T/C;G | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2002 | 2005 | ||||
|
14 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 8 | 27544615 | 3 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 13 | 42906069 | intron variant | G/A | snv | 0.27 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 30230805 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.160 | 4 | 67740682 | missense variant | C/T | snv | 1.8E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.851 | 0.160 | 6 | 116809541 | missense variant | G/A | snv | 0.72 | 0.74 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.040 | X | 104013293 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 4 | 54660528 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.240 | 12 | 88560182 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.320 | 12 | 88496894 | 3 prime UTR variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 9 | 78405502 | intergenic variant | G/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 3 | 37016100 | intron variant | C/T | snv | 0.35 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 37017520 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |