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 | 10 | 20970215 | intron variant | T/A | snv | 0.97 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.120 | 4 | 9767199 | downstream gene variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 18 | 45651657 | intron variant | G/A | snv | 0.93 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.120 | 4 | 87966175 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 16 | 69576099 | intron variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.120 | 4 | 10402888 | intergenic variant | C/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 16 | 69556463 | intergenic variant | A/G | snv | 0.89 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 16 | 69544579 | intergenic variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.160 | 4 | 88124179 | intron variant | A/G;T | snv | 0.88 | 0.700 | 1.000 | 4 | 2010 | 2019 | ||||
|
1 | 10 | 87149044 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 102633585 | intergenic variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 635857 | intergenic variant | C/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 80539480 | upstream gene variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.120 | 4 | 10071345 | non coding transcript exon variant | C/T | snv | 0.85 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
3 | 0.925 | 0.120 | 4 | 9987609 | intron variant | C/T | snv | 0.84 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||
|
7 | 0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
4 | 0.882 | 0.200 | 4 | 9995266 | intron variant | T/C | snv | 0.82 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
3 | 0.925 | 0.120 | 4 | 9983972 | intron variant | G/A | snv | 0.80 | 0.800 | 1.000 | 2 | 2009 | 2015 | ||||
|
1 | 11 | 9836202 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 0.925 | 0.120 | 4 | 9996177 | intron variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.882 | 0.200 | 10 | 59709780 | 5 prime UTR variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.200 | 10 | 59708831 | intron variant | G/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 4 | 10029170 | non coding transcript exon variant | G/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9996869 | synonymous variant | A/G | snv | 0.80 | 0.79 | 0.700 | 1.000 | 2 | 2009 | 2011 | |||
|
3 | 0.925 | 0.120 | 4 | 10315210 | intergenic variant | T/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2009 | 2009 |