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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2001 | 2018 | |||||
|
3 | 0.925 | 0.040 | X | 142772620 | intergenic variant | T/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.851 | 0.080 | X | 151177387 | non coding transcript exon variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 0.500 | 4 | 2008 | 2015 | |||
|
3 | 1.000 | 0.040 | 22 | 22047895 | intron variant | C/T | snv | 4.7E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.040 | 21 | 38360474 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 20 | 19165806 | intergenic variant | G/A | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 20 | 41197420 | intron variant | A/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 20 | 46093017 | upstream gene variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 20 | 49065345 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 20 | 46080900 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 20 | 43256482 | intergenic variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 19 | 32405810 | 5 prime UTR variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 19 | 47657765 | intron variant | G/A | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 19 | 32338607 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 18 | 55389957 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 53088362 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 53440658 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 18 | 49694188 | intergenic variant | T/G | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 18 | 55629696 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 55235854 | intron variant | A/G | snv | 0.94 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 55271138 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 18 | 55431862 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |