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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 1 | 16980180 | intron variant | C/A;G | snv | 0.700 | 1.000 | 6 | 2010 | 2019 | |||||||
|
2 | 12 | 69433878 | intergenic variant | G/T | snv | 0.42 | 0.700 | 1.000 | 5 | 2010 | 2019 | ||||||
|
4 | 6 | 34227234 | regulatory region variant | G/T | snv | 0.80 | 0.700 | 1.000 | 5 | 2008 | 2019 | ||||||
|
1 | 18 | 23155444 | intron variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||||
|
3 | 9 | 130588697 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 5 | 2008 | 2017 | ||||||
|
6 | 6 | 26200449 | 3 prime UTR variant | A/G | snv | 0.36 | 0.700 | 1.000 | 5 | 2010 | 2019 | ||||||
|
4 | 6 | 126530014 | intron variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
6 | 4 | 144653692 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 4 | 2008 | 2019 | ||||||
|
3 | 17 | 61419288 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
3 | 15 | 88852395 | intron variant | A/G | snv | 0.68 | 0.700 | 1.000 | 4 | 2010 | 2017 | ||||||
|
2 | 15 | 98651667 | intron variant | C/G | snv | 0.21 | 0.700 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 6 | 7725527 | upstream gene variant | A/T | snv | 0.38 | 0.700 | 1.000 | 4 | 2010 | 2019 | ||||||
|
2 | 5 | 168829235 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 4 | 2010 | 2019 | ||||||
|
2 | 20 | 35319358 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 4 | 2008 | 2019 | ||||||
|
2 | 6 | 34270737 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 4 | 2009 | 2019 | ||||||
|
2 | 13 | 91372320 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
2 | 3 | 172251287 | missense variant | C/G | snv | 0.54 | 0.61 | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||
|
2 | 1 | 118312964 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2010 | 2019 | |||||||
|
2 | 17 | 38765943 | 3 prime UTR variant | A/G | snv | 0.46 | 0.700 | 1.000 | 3 | 2010 | 2019 | ||||||
|
2 | 15 | 83899406 | intron variant | T/A | snv | 0.63 | 0.700 | 1.000 | 3 | 2008 | 2019 | ||||||
|
2 | 8 | 56183249 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 3 | 2008 | 2014 | ||||||
|
2 | 9 | 75927370 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 3 | 2010 | 2014 | ||||||
|
2 | 17 | 63685671 | intron variant | G/C | snv | 0.39 | 0.700 | 1.000 | 3 | 2011 | 2019 | ||||||
|
1 | 6 | 31138682 | missense variant | C/A;T | snv | 0.13; 4.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||||
|
5 | 12 | 65958046 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2010 | 2019 |