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 | 8 | 21963302 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2010 | 2017 | |||||||
|
1 | 7 | 92644264 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 44831334 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 8600592 | upstream gene variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 108982855 | downstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 14 | 103541163 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 247882970 | downstream gene variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 6 | 31267969 | downstream gene variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 11829758 | intron variant | G/A | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 22 | 40196077 | intron variant | TTT/-;T;TT;TTTT;TTTTTTTTT | delins | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 23028147 | intron variant | CAAA/-;CAAACAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 15 | 65805720 | intron variant | TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTTT | delins | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 4932010 | intron variant | A/G | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 9959218 | intron variant | AAAA/-;A;AA;AAA;AAAAA;AAAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 117618398 | intron variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 117626204 | 3 prime UTR variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 24221945 | intron variant | C/T | snv | 7.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 5228885 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 15 | 31261168 | intergenic variant | G/C | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 196176059 | intergenic variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 41892514 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 158609130 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 111208250 | intron variant | A/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 99516499 | intergenic variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 64701469 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |