| 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 | 1 | 12601409 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 110249200 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 154286073 | upstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 47687468 | upstream gene variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 33289932 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 1 | 155419060 | intron variant | A/T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 219624333 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 16043683 | upstream gene variant | -/GTCTG;TTCTG | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 198612161 | intergenic variant | C/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 217262839 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 212229238 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 154950123 | intron variant | C/A;G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 156314104 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 52875213 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 11797979 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 51189748 | regulatory region variant | G/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 20894208 | intron variant | G/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 39206873 | 3 prime UTR variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 157014247 | intron variant | T/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 16042482 | upstream gene variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1 | 39962303 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.807 | 0.240 | 1 | 173866073 | non coding transcript exon variant | C/T | snv | 0.22 | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1 | 158613048 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 1 | 172198086 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 |