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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1 | 36482287 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 8 | 129599504 | intron variant | TT/-;T;TTT;TTTT;TTTTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 10 | 97314229 | upstream gene variant | -/CAGGTTCAAGCGA | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 18 | 46245574 | intron variant | AA/-;A;AAA;AAAA;AAAAAAA;AAAAAAAAAAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 22 | 17686446 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 19 | 18405498 | intergenic variant | AAA/-;A;AA;AAAA;AAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 17 | 38437623 | intron variant | CC/-;C;CCC;CCCC;CCCCC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 16 | 3696240 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 9 | 136427805 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
15 | 0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1 | 56158423 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 5 | 173778222 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 17 | 1417822 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
8 | 0.882 | 0.080 | 7 | 92606850 | 3 prime UTR variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 11 | 128459018 | 3 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 19 | 1036019 | intron variant | G/A;C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 42854959 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 12 | 112191863 | intron variant | G/C | snv | 8.2E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 218135259 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 11 | 118210555 | missense variant | C/T | snv | 4.0E-03 | 3.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 9 | 132989126 | synonymous variant | C/T | snv | 4.1E-03 | 4.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 12 | 53354069 | regulatory region variant | A/T | snv | 7.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 17 | 40017384 | 3 prime UTR variant | C/T | snv | 9.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |