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 | 4 | 87238988 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 5 | 75341886 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
2 | 5 | 75340659 | intron variant | C/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 11 | 116851325 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 5 | 173965395 | downstream gene variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 8 | 54509054 | upstream gene variant | G/A | snv | 0.19 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||||
|
1 | 20 | 41472901 | intron variant | A/G;T | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 104888562 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 18611437 | intron variant | T/C | snv | 0.64 | 0.55 | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||
|
2 | 7 | 87447271 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 7 | 142672656 | downstream gene variant | T/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 20982585 | intergenic variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 168974288 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 2 | 101025798 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 2 | 21021128 | intron variant | G/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 74480389 | 3 prime UTR variant | C/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 7 | 44544952 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
1 | 9 | 76038907 | intron variant | T/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 58399138 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 9 | 122376185 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.080 | 19 | 44901805 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 6 | 2010 | 2018 | ||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
6 | 19 | 47093845 | non coding transcript exon variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 |