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 | 18 | 49632720 | intergenic variant | A/G | snv | 0.86 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
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 | ||||
|
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 | |||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
12 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
11 | 0.882 | 0.080 | 16 | 56954132 | intergenic variant | C/T | snv | 0.33 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.800 | 1.000 | 5 | 2009 | 2019 | |||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
6 | 0.925 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
5 | 0.925 | 0.080 | 9 | 104894789 | intron variant | G/A | snv | 0.14 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
3 | 1.000 | 0.040 | 16 | 67868167 | intron variant | G/A | snv | 0.11 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
3 | 1.000 | 0.040 | 16 | 67979568 | intron variant | T/C | snv | 0.34 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||
|
4 | 0.925 | 0.040 | 19 | 8404854 | downstream gene variant | C/T | snv | 0.20 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||
|
6 | 1.000 | 0.040 | 2 | 20983311 | regulatory region variant | T/G | snv | 0.27 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||
|
18 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.080 | 11 | 48497341 | downstream gene variant | A/G | snv | 0.56 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 17 | 2525214 | intergenic variant | C/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.800 | 1.000 | 9 | 2010 | 2019 | |||||
|
17 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 0.800 | 1.000 | 7 | 2010 | 2019 |