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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
2 | 0.925 | 0.040 | 14 | 103554804 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 14 | 103624778 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.040 | 11 | 10369034 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 103852954 | downstream gene variant | A/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 12 | 104360722 | intergenic variant | C/T | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 9 | 104376689 | intergenic variant | A/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 104430453 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 10461101 | 3 prime UTR variant | A/C;G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 104636656 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 5 | 104646025 | intron variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 5 | 104676602 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 5 | 104686538 | intron variant | C/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 5 | 104734216 | intron variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 104746478 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 10 | 104800467 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 10 | 104804166 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 104851081 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 104854813 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 104876239 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 104918016 | intron variant | C/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 104942078 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.040 | 8 | 105130105 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.080 | 13 | 105467097 | missense variant | G/A | snv | 0.40 | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 |