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 | 1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv | 0.700 | 1.000 | 7 | 1996 | 2007 | |||||
|
1 | 18 | 51065532 | missense variant | C/A | snv | 0.700 | 1.000 | 7 | 1996 | 2007 | |||||||
|
1 | 18 | 51078417 | missense variant | G/T | snv | 0.700 | 1.000 | 7 | 1996 | 2007 | |||||||
|
1 | 5 | 112839693 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 1992 | 2015 | |||||||
|
7 | 0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 7 | 2002 | 2014 | |||||
|
3 | 1.000 | 0.120 | 18 | 51065456 | missense variant | A/C;G | snv | 0.700 | 1.000 | 7 | 1996 | 2007 | |||||
|
1 | 5 | 112839879 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1992 | 2014 | |||||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.700 | 1.000 | 6 | 2008 | 2019 | ||||
|
10 | 0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.700 | 1.000 | 5 | 2014 | 2019 | ||||
|
1 | 5 | 112839729 | stop gained | G/T | snv | 0.700 | 1.000 | 5 | 1992 | 2015 | |||||||
|
1 | 5 | 112839726 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1994 | 2014 | |||||||
|
11 | 0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 | 0.700 | 1.000 | 5 | 2010 | 2019 | ||||
|
13 | 0.763 | 0.080 | 18 | 48924606 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 5 | 2014 | 2019 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 4 | 2007 | 2018 | ||||
|
9 | 0.790 | 0.080 | 12 | 4259186 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 4 | 2008 | 2019 | ||||
|
18 | 0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 4 | 2014 | 2019 | ||||
|
6 | 0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv | 0.700 | 1.000 | 4 | 1992 | 2014 | |||||
|
1 | 5 | 112839510 | stop gained | G/A;T | snv | 0.700 | 1.000 | 4 | 1992 | 2015 | |||||||
|
10 | 0.776 | 0.080 | 15 | 32700910 | downstream gene variant | C/T | snv | 0.11 | 0.710 | 1.000 | 4 | 2014 | 2019 | ||||
|
23 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 0.700 | 1.000 | 4 | 2014 | 2019 | ||||
|
10 | 0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
10 | 0.776 | 0.080 | 12 | 4279105 | intron variant | C/T | snv | 8.7E-02 | 0.700 | 1.000 | 4 | 2013 | 2019 | ||||
|
9 | 0.790 | 0.080 | 11 | 74634505 | intron variant | T/G | snv | 0.40 | 0.700 | 1.000 | 4 | 2012 | 2019 |