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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 12 | 20535707 | intron variant | A/T | snv | 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 1 | 162323515 | intron variant | A/G | snv | 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 162324355 | intron variant | A/G | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 162323874 | intron variant | G/A | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 11 | 102959002 | upstream gene variant | A/G | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 119802381 | intron variant | T/C | snv | 0.97 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 12 | 49361379 | downstream gene variant | T/A | snv | 0.97 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 8 | 32419595 | intron variant | G/A | snv | 0.97 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 151825722 | intron variant | T/C | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 3 | 129976195 | intron variant | G/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 17 | 75719444 | upstream gene variant | C/T | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 107436774 | synonymous variant | A/C | snv | 0.99 | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 11 | 73226816 | intron variant | C/T | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 80711306 | regulatory region variant | C/A | snv | 0.94 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||||
|
16 | 0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1 | 154403877 | non coding transcript exon variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
16 | 0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 2 | 218436132 | intron variant | A/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 11 | 116769521 | intron variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 11 | 116781775 | intron variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.882 | 0.040 | 11 | 116715567 | regulatory region variant | T/C | snv | 0.93 | 0.700 | 1.000 | 2 | 2010 | 2019 | ||||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
9 | 0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2013 | 2013 |