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 | 11 | 36725205 | regulatory region variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.120 | 22 | 25763322 | missense variant | G/A;C | snv | 0.55 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 6 | 109255740 | intron variant | G/A | snv | 5.0E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 137214894 | intron variant | C/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 44598021 | intron variant | C/T | snv | 1.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 136606920 | intergenic variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 28695228 | intergenic variant | A/T | snv | 0.89 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 171510209 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 4 | 58384912 | intergenic variant | T/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 171411280 | downstream gene variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 170981562 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 124999554 | intron variant | A/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 124524355 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 93614967 | downstream gene variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 172668864 | intron variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 88894787 | intron variant | A/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 111230823 | intron variant | A/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 89599052 | non coding transcript exon variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 102355371 | intron variant | A/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 8 | 142228143 | intron variant | C/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 8 | 140996099 | intron variant | C/A;G | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 19521910 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 8 | 15387338 | intergenic variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 55374672 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 73908824 | intergenic variant | T/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2018 | 2018 |