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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 | 0.700 | 1.000 | 3 | 2012 | 2017 | |||
|
7 | 0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 2 | 2012 | 2016 | ||||
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.700 | 1.000 | 2 | 2012 | 2016 | ||||
|
2 | 0.925 | 0.040 | 12 | 95210514 | missense variant | T/C | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 9 | 74002804 | intergenic variant | T/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.080 | 1 | 196735502 | intron variant | C/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.040 | 17 | 28322698 | intron variant | A/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 5 | 35494346 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.040 | 7 | 105115879 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.040 | 6 | 32187804 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.040 | 6 | 31962685 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 2 | 227222204 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 19 | 5835666 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 10 | 24710664 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 6 | 31874821 | missense variant | T/A | snv | 0.15 | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.040 | 3 | 99461824 | intergenic variant | T/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.040 | 4 | 109764664 | missense variant | C/T | snv | 4.2E-04 | 3.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 20 | 45986353 | regulatory region variant | TTCT/-;TTCTTTCT | delins | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.040 | 19 | 6718135 | missense variant | T/G | snv | 2.8E-03 | 2.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 1 | 196644043 | intergenic variant | T/C | snv | 7.7E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 9 | 99161090 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |