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 | 7 | 100032719 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 8 | 105501233 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 10 | 31510820 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 6 | 31380742 | non coding transcript exon variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.040 | 1 | 26842709 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 3 | 141428572 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 216175310 | non coding transcript exon variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 216193123 | intron variant | G/A | snv | 0.72 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2009 | 2013 | |||
|
2 | 1.000 | 0.040 | 11 | 102811075 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 11 | 102814664 | intron variant | C/A | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102814649 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 11 | 102829629 | intron variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102816969 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 11 | 102822455 | intron variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102815179 | intron variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102819400 | intron variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102831415 | intron variant | G/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102830645 | intron variant | C/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 11 | 102820688 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 11 | 102833745 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102822378 | intron variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102835016 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 102823737 | intron variant | C/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 |