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 | 1 | 2036515 | intergenic variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 2024923 | non coding transcript exon variant | G/A | snv | 0.80 | 0.81 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 17 | 30204775 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.160 | 12 | 117439680 | intron variant | C/T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
11 | 0.790 | 0.160 | 6 | 35702206 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 7 | 159028856 | 3 prime UTR variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 13 | 46871568 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | < 0.001 | 2 | 2010 | 2011 | ||||
|
6 | 0.882 | 0.120 | 6 | 15658674 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.882 | 0.120 | 6 | 15544505 | intron variant | A/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.080 | X | 151177387 | non coding transcript exon variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.882 | 0.200 | 14 | 54912273 | intergenic variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.200 | 14 | 54843774 | splice region variant | G/A | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.040 | 5 | 63960164 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
1 | 12 | 121185082 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 17 | 45816520 | missense variant | C/A;T | snv | 4.0E-06; 6.4E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 206117948 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 17 | 45778528 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 |