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 | 18 | 62387624 | 3 prime UTR variant | A/C;T | snv | 0.800 | 1.000 | 4 | 2009 | 2018 | |||||||
|
3 | 13 | 42377313 | intron variant | C/T | snv | 0.39 | 0.800 | 1.000 | 4 | 2009 | 2018 | ||||||
|
2 | 11 | 27484130 | downstream gene variant | C/T | snv | 0.41 | 0.700 | 1.000 | 3 | 2012 | 2018 | ||||||
|
2 | 2 | 54457420 | intron variant | A/G | snv | 0.76 | 0.800 | 1.000 | 3 | 2008 | 2018 | ||||||
|
3 | 5 | 89080244 | intron variant | A/C | snv | 0.57 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||||
|
2 | 8 | 118995181 | upstream gene variant | T/A | snv | 0.67 | 0.800 | 1.000 | 3 | 2009 | 2013 | ||||||
|
2 | 8 | 119032590 | intron variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2008 | 2009 | |||||||
|
3 | 13 | 42554441 | regulatory region variant | T/C | snv | 0.37 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||||
|
1 | 13 | 42378009 | intron variant | C/T | snv | 0.39 | 0.800 | 1.000 | 3 | 2008 | 2018 | ||||||
|
1 | 13 | 42458457 | intron variant | C/T | snv | 0.51 | 0.800 | 1.000 | 3 | 2008 | 2009 | ||||||
|
2 | 13 | 42541997 | intergenic variant | C/T | snv | 0.79 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
2 | 7 | 121343289 | downstream gene variant | A/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2014 | 2018 | ||||||
|
1 | 1 | 22376542 | regulatory region variant | T/C | snv | 0.20 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||||
|
1 | 8 | 119000461 | intron variant | C/G | snv | 0.65 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||||
|
1 | 11 | 68495902 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||
|
2 | 1 | 68182033 | intron variant | T/A;C | snv | 0.35 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
2 | 6 | 126845927 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2018 | |||||||
|
3 | 7 | 121145010 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||||
|
2 | 2 | 165744536 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||||
|
2 | 1 | 68191827 | intron variant | T/C | snv | 0.58 | 0.800 | 1.000 | 2 | 2009 | 2014 | ||||||
|
1 | 7 | 38096675 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2018 | |||||||
|
1 | 8 | 118963431 | intergenic variant | C/T | snv | 0.34 | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||||
|
2 | 6 | 151769572 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1 | 6 | 151687645 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1 | 6 | 151689119 | intron variant | A/C;G | snv | 0.800 | 1.000 | 2 | 2009 | 2018 |