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 | 6 | 40300197 | intergenic variant | G/A | snv | 9.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 12 | 108236003 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 153973471 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 49088959 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
12 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 6 | 126395918 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 8430923 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 18 | 43164825 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 13 | 30438767 | intergenic variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 67832255 | intron variant | T/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 18328201 | intergenic variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 0.882 | 0.080 | 10 | 94279840 | missense variant | G/A;C | snv | 8.8E-05; 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 16 | 28620700 | intron variant | T/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 31347871 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 201828407 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 219568478 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 219500363 | intergenic variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 67417673 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 9218925 | intergenic variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 226243730 | intergenic variant | C/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 158574301 | intron variant | A/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 226241501 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 19 | 33509819 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 113381525 | intergenic variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 |