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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
12 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
2 | 1 | 203681817 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 117708521 | regulatory region variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 247882970 | downstream gene variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 11829758 | intron variant | G/A | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 117618398 | intron variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 117626204 | 3 prime UTR variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 158609130 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 3811497 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 154318779 | upstream gene variant | G/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 198583770 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 156314104 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 158667938 | missense variant | T/C | snv | 8.1E-03 | 8.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1 | 3080038 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 117716081 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 26546341 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1 | 158648665 | intron variant | G/A | snv | 0.26 | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1 | 161976937 | intergenic variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1 | 37473572 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
13 | 1 | 212617344 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 44022794 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 198578103 | regulatory region variant | C/G | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 23514124 | intron variant | AA/-;A;AAA | delins | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 |