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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 16 | 15054789 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 72456848 | intron variant | T/C | snv | 5.7E-03 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62503731 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 73596112 | intron variant | C/T | snv | 0.15 | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 68794860 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 11 | 68794860 | missense variant | C/G;T | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 9 | 104903458 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 58388444 | intron variant | G/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 19 | 11077477 | intron variant | A/C | snv | 0.11 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1 | 161571067 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 6 | 30049294 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 49634444 | intergenic variant | A/G | snv | 0.53 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 55650832 | intron variant | C/T | snv | 2.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 2 | 21018633 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1 | 55159875 | intron variant | C/T | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 19 | 11089332 | upstream gene variant | C/T | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 0.882 | 0.080 | 2 | 43847292 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 16 | 15078261 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 62494579 | non coding transcript exon variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 |