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 | 10 | 9286688 | non coding transcript exon variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 3 | 122226991 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 17 | 1730810 | synonymous variant | C/G;T | snv | 4.0E-06; 0.12 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 15 | 50692447 | downstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 3 | 122303570 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122380747 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122382060 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122535800 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122411294 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 7 | 65806210 | downstream gene variant | C/T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 132545965 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 3 | 122274753 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 1.000 | 0.040 | 11 | 4091970 | 3 prime UTR variant | A/G | snv | 7.7E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 3 | 122410027 | 3 prime UTR variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 122320183 | downstream gene variant | G/A | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 122307242 | regulatory region variant | C/G | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 122290328 | 3 prime UTR variant | A/G | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 49244632 | intergenic variant | T/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.800 | 1.000 | 4 | 2010 | 2018 | |||
|
18 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
2 | 1.000 | 0.080 | 20 | 54098167 | regulatory region variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 3 | 122329797 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122313942 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122311615 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122499004 | intron variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 |