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 | 7 | 119612310 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 47087947 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 46328146 | upstream gene variant | G/T | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 47762062 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 20035845 | intron variant | G/C | snv | 2.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 6044572 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 55000505 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 38708452 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | X | 155051368 | non coding transcript exon variant | C/G | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | X | 154930010 | missense variant | G/A;C;T | snv | 1.5E-04; 0.18; 5.5E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 11 | 50265529 | upstream gene variant | C/T | snv | 7.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 48706704 | intergenic variant | A/G | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 48190205 | intergenic variant | G/A | snv | 7.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 47199227 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 169689987 | intron variant | C/T | snv | 7.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 49203333 | intron variant | G/A | snv | 7.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 68392849 | intron variant | C/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 48511937 | upstream gene variant | C/T | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 54553509 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 170621629 | intron variant | A/G | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 49659632 | intron variant | T/C | snv | 7.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 46911760 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |