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 | 19 | 50637155 | intron variant | C/T | snv | 3.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 26805992 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 146194776 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 27645689 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 40782400 | intron variant | A/C | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 35156031 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 3 | 61247301 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 22 | 45413817 | 5 prime UTR variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 18 | 901685 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 621603 | intergenic variant | -/T | ins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 4 | 45175530 | intergenic variant | C/- | del | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 30126692 | upstream gene variant | TT/-;T;TTT;TTTT;TTTTTT;TTTTTTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 19798423 | intron variant | T/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 83273934 | intergenic variant | A/G | snv | 7.3E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 177909798 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 128238459 | intron variant | T/C | snv | 5.9E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 72775621 | intron variant | C/G;T | snv | 1.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 84069940 | intron variant | T/C | snv | 5.6E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 55246111 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 43708303 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 18 | 60346332 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 28828609 | intron variant | G/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 12 | 49869365 | 3 prime UTR variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 2 | 180507117 | regulatory region variant | A/G | snv | 3.0E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 112521309 | regulatory region variant | G/A | snv | 4.9E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 |