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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 10 | 32380143 | upstream gene variant | CATA/- | delins | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 22 | 19724571 | 3 prime UTR variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 17 | 4937573 | 3 prime UTR variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 194399020 | upstream gene variant | -/GTAAAC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 10 | 63341447 | intron variant | G/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 29284284 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 9 | 96430637 | intergenic variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 11 | 9729649 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 3865946 | intron variant | C/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 3126673 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 111585263 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 15 | 63049797 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 18 | 23141009 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 19 | 45212232 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 7734229 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 105842350 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 25409878 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 59849031 | upstream gene variant | TT/-;T;TTT | delins | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1.000 | 0.040 | 5 | 88884379 | non coding transcript exon variant | T/C | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 12 | 121779004 | 3 prime UTR variant | A/G | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 54317790 | non coding transcript exon variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 2302522 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 13 | 46676209 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 4974040 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 |