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 | 2 | 163674795 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 21650988 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 36725205 | regulatory region variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 8215887 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 93464818 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 106684329 | intron variant | T/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 70413850 | 5 prime UTR variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 26171022 | 3 prime UTR variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 96023656 | downstream gene variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 122534347 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 63490783 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 63759994 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 109607295 | intergenic variant | A/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 133678978 | intergenic variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 10 | 12353101 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 9 | 23967942 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 9 | 93659264 | intron variant | T/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 13350947 | regulatory region variant | T/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 95782279 | non coding transcript exon variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 98710740 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 104858690 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.040 | 1 | 69322799 | intergenic variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 43674404 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 119569355 | intergenic variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 80194928 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |