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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.800 | 1.000 | 22 | 2008 | 2019 | ||||
|
10 | 0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 | 0.800 | 1.000 | 12 | 2009 | 2019 | ||||
|
13 | 0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 | 0.800 | 1.000 | 12 | 2009 | 2019 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 12 | 2009 | 2019 | ||||
|
11 | 0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 | 0.800 | 1.000 | 12 | 2008 | 2019 | ||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.800 | 1.000 | 11 | 2007 | 2019 | ||||
|
21 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 0.800 | 1.000 | 11 | 2009 | 2019 | |||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.800 | 1.000 | 10 | 2009 | 2019 | |||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.800 | 1.000 | 9 | 2010 | 2019 | |||||
|
6 | 0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 | 0.800 | 1.000 | 9 | 2008 | 2019 | ||||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.700 | 1.000 | 7 | 2014 | 2019 | |||
|
17 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
15 | 0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 | 0.800 | 1.000 | 7 | 2012 | 2019 | ||||
|
6 | 1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv | 0.800 | 1.000 | 7 | 2008 | 2019 | |||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
10 | 0.827 | 0.040 | 16 | 56981179 | missense variant | G/C | snv | 5.2E-02 | 3.7E-02 | 0.800 | 1.000 | 7 | 2008 | 2019 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.800 | 1.000 | 7 | 2012 | 2019 | ||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 7 | 2011 | 2019 | |||||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
8 | 0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 | 0.800 | 1.000 | 6 | 2008 | 2019 | ||||
|
12 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
11 | 0.882 | 0.080 | 16 | 56954132 | intergenic variant | C/T | snv | 0.33 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.800 | 1.000 | 6 | 2010 | 2019 |