| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 87931491 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 89058858 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 16 | 86677054 | regulatory region variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
2 | 68735005 | 5 prime UTR variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 46827809 | intron variant | G/A | snv | 0.64 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
9 | 130550694 | intergenic variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 42541997 | intergenic variant | C/T | snv | 0.79 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
7 | 37898820 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 121343289 | downstream gene variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
12 | 106909000 | upstream gene variant | T/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
19 | 33108221 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 96490169 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
11 | 27286936 | intergenic variant | G/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 127198089 | 3 prime UTR variant | C/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 40403538 | intron variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 22376542 | regulatory region variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
18 | 8966146 | intergenic variant | G/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 74192430 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1.000 | 0.080 | 4 | 87811540 | missense variant | G/A | snv | 0.30 | 0.24 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
12 | 53349280 | upstream gene variant | G/A | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 22118482 | 3 prime UTR variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 89941052 | intron variant | G/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 90047438 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 122256471 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |