| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 12 | 65964567 | 3 prime UTR variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 7 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 55884174 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 141386728 | 5 prime UTR variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.882 | 0.200 | 12 | 65965972 | 3 prime UTR variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv |
|
0.700 | 1.000 | 5 | 2008 | 2019 | |||||||||
|
6 | 34227234 | regulatory region variant | G/T | snv | 0.80 |
|
0.700 | 1.000 | 5 | 2008 | 2019 | ||||||||||
|
9 | 130588697 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 5 | 2008 | 2017 | ||||||||||
|
1.000 | 0.040 | 6 | 26233159 | non coding transcript exon variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 93584728 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
4 | 144653692 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 4 | 2008 | 2019 | ||||||||||
|
20 | 35319358 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 4 | 2008 | 2019 | ||||||||||
|
0.925 | 0.080 | 3 | 141383991 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
15 | 83899406 | intron variant | T/A | snv | 0.63 |
|
0.700 | 1.000 | 3 | 2008 | 2019 | ||||||||||
|
8 | 56183249 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 3 | 2008 | 2014 | ||||||||||
|
7 | 92635096 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 3 | 2008 | 2009 | ||||||||||
|
18 | 23144364 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2008 | 2019 | |||||||||||
|
6 | 142382740 | intron variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2008 | 2019 | ||||||||||
|
3 | 141375367 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 3 | 2008 | 2019 | ||||||||||
|
4 | 18016107 | intron variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 3 | 2008 | 2019 | ||||||||||
|
17 | 61419916 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2008 | 2019 | |||||||||||
|
0.925 | 0.120 | 9 | 95497421 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2008 | 2015 | |||||||||
|
6 | 7719826 | regulatory region variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2008 | 2019 | ||||||||||
|
1 | 118341350 | intergenic variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2008 | 2019 | ||||||||||
|
19 | 2170955 | intron variant | A/T | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2008 | 2019 |