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 | 5 | 178183210 | downstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 159820864 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 25562931 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 19 | 38275020 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 20 | 1944061 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 9 | 4814948 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 6 | 31134528 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 24911877 | intron variant | CAAACAAA/-;CAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 4 | 54534440 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 19 | 19523443 | intron variant | T/-;TT;TTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 19 | 17084024 | intron variant | TTAATAACCCTTTGGG/-;TTAATAACCCTTTGGGTTAATAACCCTTTGGG | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 2 | 43224818 | missense variant | G/A;T | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 123677086 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 15 | 64895675 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 45381890 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 1838649 | regulatory region variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 205268009 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1.000 | 0.040 | 6 | 33569769 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 10 | 110232464 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
9 | 0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 5 | 76751114 | intergenic variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 2 | 218229211 | non coding transcript exon variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 17 | 66214462 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-02; 4.8E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 8954178 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |