| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 118159083 | non coding transcript exon variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
11 | 118159371 | non coding transcript exon variant | G/C | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.882 | 0.160 | 7 | 73464315 | intron variant | A/G | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
11 | 116903485 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2008 | 2018 | ||||||||
|
0.925 | 0.160 | 11 | 61813163 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
17 | 27244140 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
5 | 151678618 | intron variant | G/A | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
12 | 57619392 | 3 prime UTR variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
8 | 19961817 | intron variant | T/C | snv | 9.0E-02 |
|
0.800 | 1.000 | 1 | 2008 | 2019 | ||||||||||
|
0.763 | 0.240 | 7 | 73606007 | missense variant | C/G | snv | 0.10 | 9.4E-02 |
|
0.800 | 1.000 | 1 | 2008 | 2019 | |||||||
|
8 | 20011460 | intergenic variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
11 | 116881503 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
11 | 123863875 | upstream gene variant | T/C | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 8 | 2009 | 2019 | ||||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.925 | 0.120 | 7 | 73573024 | non coding transcript exon variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 19955669 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.925 | 0.120 | 7 | 73450539 | intron variant | A/G | snv | 9.2E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
1 | 62465961 | intron variant | C/A | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2009 | 2012 |