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 | 0.925 | 0.040 | 1 | 152619708 | downstream gene variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2015 | 2018 | |||||
|
3 | 0.882 | 0.160 | 1 | 247459055 | upstream gene variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 247435930 | intron variant | G/A | snv | 0.59 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.160 | 1 | 247423034 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 1 | 24193430 | intergenic variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 24966593 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.807 | 0.120 | 1 | 24192153 | upstream gene variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 1 | 67260421 | downstream gene variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 162404181 | intron variant | T/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 60856371 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 2 | 201241309 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 4978778 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 3 | 46371068 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
23 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 3 | 101896982 | intron variant | G/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 3 | 16954543 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 3 | 101944711 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 4 | 102593288 | non coding transcript exon variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
19 | 0.716 | 0.400 | 4 | 153685974 | intron variant | T/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 5 | 151087628 | 5 prime UTR variant | G/C;T | snv | 4.8E-02 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.882 | 0.080 | 5 | 96803547 | missense variant | C/A;G;T | snv | 0.64; 8.0E-06; 9.1E-04 | 0.020 | 1.000 | 2 | 2018 | 2018 |