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 | 12 | 15777871 | intron variant | T/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
8 | 6 | 25821542 | intron variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
4 | 1.000 | 0.040 | 22 | 22158022 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 2 | 2011 | 2014 | |||
|
2 | 17 | 58631673 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
5 | 0.882 | 0.080 | 2 | 189784590 | 5 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
22 | 0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 2 | 189514024 | regulatory region variant | C/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 5 | 4439147 | non coding transcript exon variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 13 | 95480065 | intron variant | T/- | del | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 10 | 124459913 | upstream gene variant | G/A | snv | 6.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 7 | 16788068 | downstream gene variant | T/G | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 16 | 72080103 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 189832613 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 16 | 66237397 | intergenic variant | T/C | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 22 | 37064409 | downstream gene variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 26261299 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 16 | 72110275 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 6 | 10233702 | intergenic variant | T/G | snv | 6.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 |