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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 7 | 2756323 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 3 | 2010 | 2019 | ||||||
|
8 | 0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2009 | 2019 | ||||
|
4 | 7 | 2762169 | splice donor variant | C/T | snv | 0.20 | 0.700 | 1.000 | 2 | 2010 | 2019 | ||||||
|
1 | 7 | 2786022 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 2842084 | intron variant | AGGAAGGAA/-;AGGAAGGAAAGGAAGGAA;AGGAAGGAAAGGAAGGAAAGGAAGGAAAGGAAGGAA | delins | 9.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 2823257 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 2736084 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 2830954 | intron variant | AAAA/-;AA;AAA;AAAAA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 2812656 | intron variant | C/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 2774637 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 7 | 2760887 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |