| 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 | 105404743 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 14 | 22912771 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 21 | 38493931 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 198658134 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 18 | 52913996 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 65737050 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 18 | 12945311 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 18 | 53169534 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 12974738 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 16 | 7179578 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 28610833 | non coding transcript exon variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 16 | 71954207 | missense variant | C/T | snv | 0.79 | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 2 | 198640041 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 17 | 30355435 | regulatory region variant | T/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 58875786 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 17 | 49014058 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
2 | 1.000 | 0.040 | 14 | 70894697 | intergenic variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 16 | 68263325 | upstream gene variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 52614249 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.040 | 3 | 107549762 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 85561758 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 137318216 | intergenic variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 50190438 | upstream gene variant | C/A;T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 124180030 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 136769147 | intergenic variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 |