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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.080 | 12 | 65964567 | 3 prime UTR variant | C/T | snv | 0.48 | 0.700 | 1.000 | 5 | 2007 | 2019 | ||||
|
11 | 0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 7 | 2008 | 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 | ||||
|
5 | 1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 2008 | 2019 | |||||
|
4 | 6 | 34227234 | regulatory region variant | G/T | snv | 0.80 | 0.700 | 1.000 | 5 | 2008 | 2019 | ||||||
|
3 | 9 | 130588697 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 5 | 2008 | 2017 | ||||||
|
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 | |||||
|
6 | 4 | 144653692 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 4 | 2008 | 2019 | ||||||
|
2 | 20 | 35319358 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 4 | 2008 | 2019 | ||||||
|
4 | 0.925 | 0.080 | 3 | 141383991 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 4 | 2008 | 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 | ||||||
|
5 | 7 | 92635096 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 3 | 2008 | 2009 | ||||||
|
4 | 18 | 23144364 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2008 | 2019 | |||||||
|
5 | 6 | 142382740 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 3 | 2008 | 2019 | ||||||
|
4 | 3 | 141375367 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 3 | 2008 | 2019 | ||||||
|
2 | 4 | 18016107 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 3 | 2008 | 2019 | ||||||
|
4 | 17 | 61419916 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2008 | 2019 | |||||||
|
4 | 0.925 | 0.120 | 9 | 95497421 | intron variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2008 | 2015 | |||||
|
4 | 6 | 7719826 | regulatory region variant | G/A | snv | 0.37 | 0.700 | 1.000 | 2 | 2008 | 2019 | ||||||
|
2 | 1 | 118341350 | intergenic variant | G/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2008 | 2019 | ||||||
|
2 | 19 | 2170955 | intron variant | A/T | snv | 0.46 | 0.700 | 1.000 | 2 | 2008 | 2019 |