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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.700 | 1.000 | 3 | 2012 | 2013 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 10 | 2008 | 2013 | ||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.700 | 1.000 | 5 | 2008 | 2012 | |||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 5 | 2008 | 2013 | |||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 4 | 2008 | 2013 | |||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
12 | 0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 1.000 | 0.320 | 9 | 2640759 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
12 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 0.700 | 1.000 | 3 | 2009 | 2013 | |||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
19 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.790 | 0.280 | 2 | 43872294 | missense variant | C/A;T | snv | 0.21; 1.2E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 |