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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 4 | 879499 | intron variant | TACT/-;TACTTACT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 0.833 | 6 | 2007 | 2019 | |||||
|
4 | 0.882 | 0.080 | 4 | 89813384 | intron variant | T/G | snv | 0.15 | 0.720 | 1.000 | 5 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.040 | X | 121049176 | missense variant | T/G | snv | 2.7E-02 | 3.2E-02 | 0.030 | 1.000 | 3 | 2010 | 2013 | |||
|
1 | 1.000 | 0.040 | 3 | 183042285 | intron variant | T/G | snv | 0.22 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 89587189 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 236024319 | intron variant | T/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 40204350 | intron variant | T/G | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 17 | 44349468 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 2 | 168299085 | intergenic variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 17579692 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 17731923 | intron variant | T/G | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 17 | 45828115 | intron variant | T/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.120 | 19 | 38878729 | 3 prime UTR variant | T/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.120 | 17 | 46788073 | intron variant | T/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 13812318 | intron variant | T/G | snv | 0.88 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 17 | 45916010 | intron variant | T/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 17 | 45896132 | non coding transcript exon variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.120 | 20 | 34141638 | regulatory region variant | T/G | snv | 0.73 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 6 | 7144958 | intron variant | T/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 22 | 24444150 | intron variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 11 | 60171834 | downstream gene variant | T/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 11650504 | missense variant | T/G | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.100 | 0.955 | 22 | 2004 | 2020 |