| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 65419378 | upstream gene variant | C/G | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 160596961 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 152097101 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 152062578 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 169584622 | intron variant | G/A | snv | 3.3E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 169525758 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
3 | 184004187 | intron variant | C/A | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||
|
1.000 | 0.120 | 8 | 19793650 | regulatory region variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
16 | 56978024 | non coding transcript exon variant | C/T | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 49562320 | synonymous variant | C/A;T | snv | 9.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 124806310 | intron variant | A/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 44322845 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 124777047 | 3 prime UTR variant | C/T | snv | 0.55 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
12 | 124776099 | downstream gene variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56966372 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
17 | 75719444 | upstream gene variant | C/T | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 126285829 | intron variant | C/T | snv | 4.4E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 20948518 | intron variant | A/G | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 35383642 | intron variant | T/G | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 37665537 | intron variant | G/A | snv | 3.0E-03 | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
21 | 33269190 | intron variant | T/C | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 41854294 | downstream gene variant | T/C | snv | 7.5E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 49571028 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |