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 | 14 | 58349121 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 10 | 4921135 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 2 | 59724330 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 20 | 57560143 | upstream gene variant | C/T | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 15 | 66740813 | non coding transcript exon variant | T/C | snv | 0.78 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 2 | 48735152 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 4 | 88808923 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 9 | 93996060 | intergenic variant | A/G | snv | 0.31 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 2 | 118686653 | regulatory region variant | G/A | snv | 0.57 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 6 | 127118902 | splice region variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 8 | 25784248 | intergenic variant | A/C | snv | 0.38 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 5 | 142698150 | upstream gene variant | A/G | snv | 0.22 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 12 | 93698914 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 10 | 3539029 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 15 | 41780332 | intron variant | C/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 10 | 93587048 | intron variant | G/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 6 | 34224259 | downstream gene variant | C/A | snv | 2.5E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 17 | 70450720 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 4 | 124299553 | intergenic variant | A/C | snv | 0.30 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 5 | 133076607 | intron variant | A/G | snv | 0.21 | 0.21 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 8 | 25607174 | intron variant | G/T | snv | 0.49 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 3 | 33831295 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 9 | 109210391 | intron variant | T/A | snv | 0.15 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 2 | 9558061 | upstream gene variant | T/C | snv | 0.63 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 6 | 41740926 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 9.5E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 |