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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 17 | 74703694 | intron variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2009 | 2017 | |||||||
|
8 | 1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
13 | 1.000 | 0.040 | 2 | 210678331 | 3 prime UTR variant | T/C | snv | 0.28 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
3 | 1 | 247442297 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
1 | 16 | 71998831 | intron variant | T/A;C | snv | 0.38 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 11 | 60229521 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||||
|
6 | 5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 | 0.800 | 1.000 | 2 | 2009 | 2016 | |||||
|
3 | 2 | 241357034 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
6 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 2 | 102115231 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
4 | 1.000 | 0.040 | 4 | 154561591 | upstream gene variant | G/A | snv | 0.17 | 0.800 | 1.000 | 2 | 2009 | 2013 | ||||
|
21 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||
|
1 | 3 | 123145924 | intron variant | G/T | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||
|
3 | 7 | 36044919 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1 | 9 | 89604345 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
3 | 21 | 39093586 | regulatory region variant | G/T | snv | 0.22 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
1 | 2 | 241298487 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
4 | 4 | 3450618 | upstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 22 | 50663510 | intergenic variant | A/C | snv | 0.20 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
6 | 1.000 | 0.080 | 4 | 154568456 | missense variant | C/T | snv | 2.4E-03 | 2.7E-03 | 0.800 | 1.000 | 2 | 2011 | 2016 | |||
|
3 | 4 | 154567669 | synonymous variant | C/T | snv | 0.17 | 0.15 | 0.800 | 1.000 | 2 | 2009 | 2011 | |||||
|
4 | 1.000 | 0.080 | 1 | 154447611 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2016 | 2017 |