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 | 17 | 1454457 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 8 | 104966140 | intron variant | T/A | snv | 7.6E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 1 | 88866416 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
5 | 10 | 18439030 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.040 | 22 | 29057205 | 3 prime UTR variant | G/C | snv | 0.38 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
5 | 1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||
|
2 | 15 | 94768842 | intergenic variant | T/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
6 | 4 | 80253438 | TF binding site variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 15 | 66648746 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 18 | 75328421 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 16 | 24718909 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
10 | 0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 15 | 40029150 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 4 | 105989801 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 12 | 20215335 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 2 | 45651621 | 5 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||
|
2 | 2 | 42940738 | intergenic variant | A/C | snv | 5.7E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 3 | 154972550 | upstream gene variant | C/T | snv | 7.2E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 4 | 14878321 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 56397112 | intergenic variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 62258054 | regulatory region variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 71999568 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 98122398 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 99645618 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 |