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 | 2 | 10122697 | synonymous variant | C/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 2 | 201190589 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 49902723 | missense variant | A/G | snv | 8.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 7 | 55173087 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 9 | 117712651 | missense variant | A/G | snv | 6.5E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 3 | 189527804 | intergenic variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 156842109 | missense variant | T/C;G | snv | 8.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 51296650 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 3 | 189638432 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 17 | 39724864 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1 | 5 | 151029787 | downstream gene variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 14141866 | downstream gene variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 10 | 32017334 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 41721077 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 15 | 98956205 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 5 | 112819077 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 14138061 | downstream gene variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 8 | 9552985 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 19 | 41337556 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 8 | 9549072 | intergenic variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 8 | 9751081 | intron variant | C/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 1 | 43671586 | missense variant | C/A;G;T | snv | 0.70 | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.080 | 8 | 9545693 | regulatory region variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 8 | 9670197 | splice donor variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 16 | 55484060 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |