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 | 153362049 | downstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 193326609 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 162143120 | intron variant | C/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 169632043 | upstream gene variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1 | 169712216 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1 | 3410468 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1 | 72287256 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.925 | 0.120 | 1 | 150979001 | upstream gene variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1 | 228003374 | upstream gene variant | T/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.080 | 1 | 161047766 | synonymous variant | C/T | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1 | 201814554 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 16093094 | intergenic variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 1 | 159711574 | downstream gene variant | G/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 100728649 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 1 | 153689947 | missense variant | G/A | snv | 9.5E-03 | 1.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1 | 112504257 | intron variant | C/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 62456989 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 25068642 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.827 | 0.200 | 1 | 230714140 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 |