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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.752 | 0.160 | 11 | 27678578 | intron variant | C/T | snv | 0.82 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.851 | 0.120 | 22 | 41381096 | intron variant | G/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 2 | 133887223 | regulatory region variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.851 | 0.280 | 8 | 39908329 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
2 | 12 | 21839392 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 5 | 104734216 | intron variant | A/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 17 | 45829462 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.040 | 5 | 76968168 | intron variant | A/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.040 | 17 | 45830379 | non coding transcript exon variant | C/G;T | snv | 4.4E-06; 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 12 | 6839735 | 3 prime UTR variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
23 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1 | 7811169 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.080 | 1 | 7806023 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1 | 7796286 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.882 | 0.120 | 15 | 78578946 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 |