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 | 3 | 96431316 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 21378943 | regulatory region variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 174283195 | intergenic variant | T/- | del | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 102438768 | intergenic variant | C/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 162964207 | intergenic variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 21 | 13377702 | intergenic variant | G/A | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 42267463 | non coding transcript exon variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 4007811 | intergenic variant | A/G | snv | 0.53 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 89970201 | intergenic variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 13 | 61104778 | intron variant | G/A | snv | 0.43 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 12 | 120925921 | TF binding site variant | T/C | snv | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 4 | 136739228 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 6 | 166292681 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 12 | 131600651 | upstream gene variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 14 | 28552722 | intergenic variant | C/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 71309082 | intergenic variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 22 | 50666252 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 10 | 87578876 | intergenic variant | A/C | snv | 0.84 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 95028031 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 12 | 131040508 | intron variant | C/A;T | snv | 0.35 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 7 | 134565570 | intron variant | A/C | snv | 0.51 | 0.52 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 10 | 5045786 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 13 | 18865983 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 |