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 | 99527667 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 20 | 6641070 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 1.000 | 0.040 | 4 | 105185196 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 4 | 6977000 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 183275101 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 21783741 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 103453439 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 48496273 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 5 | 89058858 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||||
|
1 | 5 | 33163672 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 9 | 14456933 | intron variant | C/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 116155618 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 5 | 132350453 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 177693696 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 56790978 | intergenic variant | G/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 184572468 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 89340289 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 32160607 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 46161757 | intergenic variant | A/G | snv | 0.23 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||||
|
1 | 10 | 11865983 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 121652881 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 8 | 71199443 | intron variant | T/C | snv | 0.40 | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 8 | 130361641 | non coding transcript exon variant | C/G;T | snv | 0.77 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 113405402 | intergenic variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 |