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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 7 | 2008 | 2019 | ||||
|
6 | 1 | 16980180 | intron variant | C/A;G | snv | 0.700 | 1.000 | 6 | 2010 | 2019 | |||||||
|
4 | 1.000 | 0.040 | 2 | 55884174 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 6 | 2008 | 2019 | ||||
|
5 | 1.000 | 0.040 | 3 | 141386728 | 5 prime UTR variant | A/G | snv | 0.52 | 0.700 | 1.000 | 6 | 2008 | 2019 | ||||
|
7 | 0.882 | 0.200 | 12 | 65965972 | 3 prime UTR variant | C/A | snv | 0.56 | 0.700 | 1.000 | 6 | 2008 | 2019 | ||||
|
7 | 0.882 | 0.080 | 12 | 65964567 | 3 prime UTR variant | C/T | snv | 0.48 | 0.700 | 1.000 | 5 | 2007 | 2019 | ||||
|
2 | 12 | 69433878 | intergenic variant | G/T | snv | 0.42 | 0.700 | 1.000 | 5 | 2010 | 2019 | ||||||
|
5 | 1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 2008 | 2019 | |||||
|
17 | 0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 | 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 | ||||||
|
4 | 1.000 | 0.040 | 14 | 60490561 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 5 | 2010 | 2019 | ||||
|
1 | 18 | 23155444 | intron variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2014 | 2019 | |||||||
|
4 | 1.000 | 0.040 | 11 | 75565133 | intron variant | A/C | snv | 0.78 | 0.700 | 1.000 | 5 | 2012 | 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 | ||||||
|
5 | 1.000 | 0.040 | 6 | 26233159 | non coding transcript exon variant | A/G | snv | 0.26 | 0.700 | 1.000 | 4 | 2008 | 2019 | ||||
|
3 | 1.000 | 0.080 | 12 | 93584728 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2008 | 2019 | |||||
|
9 | 0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 | 0.700 | 1.000 | 4 | 2013 | 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 |