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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.882 | 0.080 | 7 | 44196069 | intron variant | G/A;C | snv | 0.800 | 1.000 | 7 | 2009 | 2019 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2009 | 2019 | |||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||
|
22 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
3 | 1.000 | 0.080 | 9 | 4289050 | intron variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
7 | 0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2019 | |||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.080 | 7 | 15025842 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 92958366 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2019 | |||||
|
2 | 9 | 4290085 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||||
|
2 | 20 | 22576461 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
4 | 2 | 168944978 | intron variant | A/G;T | snv | 0.75 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
1 | 7 | 14882382 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 44205764 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 12 | 132465032 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 10 | 111279909 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 3 | 49417897 | synonymous variant | C/A;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 131285034 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 46279171 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 0.925 | 0.120 | 2 | 27744393 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 65704679 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
14 | 0.851 | 0.200 | 11 | 61836038 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.080 | 11 | 73140418 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.120 | 15 | 98715481 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |