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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.710 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 165096466 | intron variant | A/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 18 | 53088362 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 156254801 | non coding transcript exon variant | C/T | snv | 0.73 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 18 | 55431781 | intron variant | G/C | snv | 0.55 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 0.040 | 18 | 37558282 | intron variant | A/G | snv | 0.52 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 2983774 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 7 | 31115733 | downstream gene variant | T/C | snv | 0.56 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 158562296 | intron variant | T/A | snv | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
4 | 0.882 | 0.120 | 12 | 72032174 | 3 prime UTR variant | G/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
2 | 1.000 | 0.040 | 11 | 31828558 | non coding transcript exon variant | G/T | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
7 | 0.827 | 0.080 | 12 | 106987362 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
6 | 0.827 | 0.080 | 6 | 15653418 | intron variant | A/C | snv | 0.26 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 82820719 | 3 prime UTR variant | A/C | snv | 0.57 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 142675481 | intron variant | C/A;G | snv | 0.53 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2008 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 124556401 | intron variant | C/T | snv | 0.11 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 23737629 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 140832953 | intron variant | T/C | snv | 0.59 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
5 | 0.851 | 0.120 | 5 | 1394962 | intron variant | C/T | snv | 0.45 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.040 | 5 | 88707586 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
1 | 1.000 | 0.040 | 5 | 165057942 | non coding transcript exon variant | T/G | snv | 0.57 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
7 | 0.851 | 0.040 | 1 | 78772330 | intergenic variant | T/C | snv | 0.29 | 0.800 | 1.000 | 2 | 2013 | 2013 |