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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.080 | 11 | 89178528 | missense variant | C/A | snv | 0.25 | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 11 | 69088127 | 3 prime UTR variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 5887074 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 9 | 124228906 | intergenic variant | T/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 63923312 | intron variant | G/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 62436393 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 131076476 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 16795288 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 7522288 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 112404471 | downstream gene variant | T/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 116529865 | upstream gene variant | A/C;T | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 16 | 89919722 | missense variant | T/C | snv | 5.6E-03 | 6.6E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 14 | 68047559 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 17274327 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 10977377 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 26795661 | intron variant | C/G | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.851 | 0.120 | 15 | 28111713 | 3 prime UTR variant | C/T | snv | 0.49 | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 8 | 42130366 | upstream gene variant | C/T | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 77791809 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 178102968 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1.000 | 0.040 | 16 | 89919683 | missense variant | G/A | snv | 5.3E-03 | 4.7E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1 | 7890788 | intergenic variant | C/T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 11856482 | intergenic variant | C/T | snv | 6.6E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 15 | 28141480 | synonymous variant | C/T | snv | 0.25 | 0.26 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 5 | 74721319 | missense variant | G/A;T | snv | 2.6E-05; 6.5E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 |