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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 18 | 49634583 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
2 | 19 | 8368312 | intron variant | C/A | snv | 0.55 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
6 | 0.925 | 0.040 | 19 | 11236817 | synonymous variant | T/C | snv | 0.15 | 0.20 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
3 | 11 | 122651667 | upstream gene variant | T/C | snv | 0.39 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 12 | 124777047 | 3 prime UTR variant | C/T | snv | 0.55 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
13 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 0.700 | 1.000 | 2 | 2008 | 2013 | |||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 4 | 26061368 | regulatory region variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 15 | 58431227 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 9 | 98325004 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 11 | 120281882 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 11 | 54607190 | upstream gene variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1 | 156730859 | intron variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 1.000 | 0.040 | 11 | 65623846 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 19 | 11232027 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 3 | 52498102 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
5 | 1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 7 | 150832361 | intron variant | T/C | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 3 | 132444356 | intron variant | G/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 19 | 51820963 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 6 | 127114919 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 3 | 50091966 | intron variant | C/T | snv | 0.61 | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 |