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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.925 | 0.080 | 9 | 4763176 | downstream gene variant | T/C | snv | 0.44 | 0.700 | 1.000 | 5 | 2009 | 2019 | ||||
|
4 | 0.882 | 0.080 | 6 | 33580617 | intron variant | G/T | snv | 0.19 | 0.700 | 1.000 | 3 | 2010 | 2019 | ||||
|
5 | 10 | 63344740 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 3 | 2012 | 2019 | ||||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2012 | 2019 | |||||
|
3 | 14 | 68958750 | intron variant | T/C | snv | 7.4E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 7 | 80606698 | intron variant | T/G | snv | 0.44 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||||
|
9 | 9 | 132989126 | synonymous variant | C/T | snv | 4.1E-03 | 4.1E-03 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
5 | 10 | 93079885 | downstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 12 | 630843 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
7 | 0.882 | 0.040 | 7 | 106731773 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||
|
3 | 1 | 247549001 | intron variant | T/C | snv | 0.44 | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
1 | 13 | 95247462 | intron variant | C/A | snv | 0.91 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
2 | 12 | 111752634 | intron variant | C/A | snv | 0.35 | 0.700 | 1.000 | 2 | 2012 | 2019 | ||||||
|
10 | 0.790 | 0.160 | 12 | 111449855 | 3 prime UTR variant | A/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2010 | 2014 | ||||
|
14 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.700 | 1.000 | 2 | 2010 | 2019 | ||||
|
1 | 3 | 184372454 | 3 prime UTR variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||||
|
1 | 6 | 33574746 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||||
|
2 | 2 | 68735005 | 5 prime UTR variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 5 | 132350453 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 29282742 | non coding transcript exon variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 159172350 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 14 | 102591686 | upstream gene variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 120236957 | upstream gene variant | G/T | snv | 0.75 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 14 | 68985371 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 |