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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 18 | 60185715 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2009 | 2019 | |||||
|
17 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2009 | 2015 | |||||
|
2 | 11 | 27650705 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 1.000 | 0.080 | 16 | 53771053 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 16 | 53785965 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1 | 96427444 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 16 | 15037797 | 3 prime UTR variant | -/A;AA;AAA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 0.925 | 0.120 | 16 | 53811575 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 16 | 53766475 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 20 | 58589799 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 2 | 223072020 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 96882719 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.080 | 16 | 53773852 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 3 | 150469527 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 35156031 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 3 | 61247301 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 6 | 40380914 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 47413435 | synonymous variant | G/A;T | snv | 0.31; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 621603 | intergenic variant | -/T | ins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 16 | 31014320 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 30126692 | upstream gene variant | TT/-;T;TTT;TTTT;TTTTTT;TTTTTTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.080 | 18 | 60215554 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 1.000 | 0.080 | 10 | 102837167 | synonymous variant | C/A;T | snv | 0.40; 8.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 |