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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 | 0.030 | 1.000 | 3 | 2013 | 2020 | ||||
|
3 | 0.882 | 0.200 | 2 | 112774659 | 3 prime UTR variant | T/C | snv | 0.32 | 0.030 | 1.000 | 3 | 2013 | 2020 | ||||
|
5 | 0.827 | 0.200 | 2 | 112775308 | intron variant | G/T | snv | 0.64 | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.030 | 1.000 | 3 | 2013 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 112784242 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 2 | 112805784 | TF binding site variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 112809853 | intergenic variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 0.667 | 3 | 2009 | 2019 | |||
|
1 | 1.000 | 0.040 | 7 | 114391119 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 11520829 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 115274600 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 2 | 11581409 | intron variant | T/A;G | snv | 0.710 | 0.500 | 2 | 2017 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 11587381 | splice acceptor variant | G/A | snv | 0.53 | 0.61 | 0.840 | 1.000 | 4 | 2012 | 2015 | |||
|
1 | 1.000 | 0.040 | 9 | 116782154 | intron variant | T/C | snv | 0.84 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 117684248 | intergenic variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
9 | 0.776 | 0.200 | 11 | 122152479 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2004 | 2010 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2004 | 2010 | |||||
|
1 | 1.000 | 0.040 | 12 | 124120741 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 125958758 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.763 | 0.160 | 8 | 127014615 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 9 | 131022553 | intron variant | ATTTATTT/-;ATTT;ATTTATTTATTT;ATTTATTTATTTATTT;ATTTATTTATTTATTTATTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 |