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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 6 | 2013 | 2019 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 5 | 2017 | 2019 | |||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
18 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.716 | 0.280 | 3 | 49534707 | 3 prime UTR variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 1.000 | 0.040 | 2 | 210678331 | 3 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
12 | 0.776 | 0.080 | 10 | 50888694 | upstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.925 | 0.080 | 7 | 150993088 | intron variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.776 | 0.080 | 20 | 34625392 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
11 | 0.925 | 0.080 | 9 | 133271182 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 | 0.700 | 1.000 | 9 | 2016 | 2019 | ||||
|
10 | 1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 | 0.700 | 1.000 | 5 | 2018 | 2019 | ||||
|
10 | 8 | 125465736 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |