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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 12 | 5495458 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 6 | 151966232 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 10 | 119342186 | intron variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.280 | 19 | 50377484 | 5 prime UTR variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 10 | 119316984 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.200 | 19 | 11113589 | synonymous variant | A/G | snv | 0.63 | 0.66 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 11 | 14000092 | intron variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.742 | 0.280 | 18 | 63153338 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 21 | 37358422 | intron variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 15 | 32053864 | intron variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 0.925 | 0.080 | 15 | 32058469 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 11 | 121612692 | non coding transcript exon variant | C/T | snv | 0.55 | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 20 | 4163930 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.160 | 3 | 85555773 | intron variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
20 | 0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 |