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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 1 | 220796686 | missense variant | A/G | snv | 0.75 | 0.78 | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
8 | 1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv | 0.700 | 1.000 | 4 | 2013 | 2019 | |||||
|
3 | 8 | 58479765 | intergenic variant | G/A | snv | 0.75 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
4 | 1 | 62612551 | intron variant | A/T | snv | 0.32 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
2 | 19 | 11078223 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
5 | 10 | 112150963 | 3 prime UTR variant | A/G | snv | 0.71 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 19 | 58170494 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 3 | 2018 | 2019 | |||
|
5 | 2 | 20994618 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
6 | 11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
6 | 0.882 | 0.040 | 6 | 160690668 | intergenic variant | C/T | snv | 1.0E-02 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
6 | 8 | 9323885 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
2 | 20 | 17864040 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
6 | 0.851 | 0.080 | 1 | 55063542 | stop gained | C/A;T | snv | 5.6E-04 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
3 | 19 | 44793549 | missense variant | C/G;T | snv | 2.4E-02 | 3.3E-02 | 0.700 | 1.000 | 3 | 2014 | 2019 | |||||
|
2 | 5 | 75343434 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||
|
11 | 0.925 | 0.080 | 9 | 133271182 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||
|
10 | 0.851 | 0.080 | 1 | 109278889 | downstream gene variant | T/G | snv | 0.63 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
4 | 1.000 | 0.040 | 17 | 28367840 | missense variant | G/A | snv | 0.51 | 0.51 | 0.700 | 1.000 | 3 | 2017 | 2018 | |||
|
11 | 1.000 | 0.040 | 17 | 69085137 | missense variant | A/G | snv | 9.3E-03 | 1.0E-02 | 0.700 | 1.000 | 3 | 2015 | 2018 | |||
|
2 | 2 | 168974151 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
4 | 1.000 | 0.080 | 19 | 44901805 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
4 | 1 | 25442446 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
2 | 1 | 92502755 | regulatory region variant | T/C | snv | 0.85 | 0.700 | 1.000 | 2 | 2015 | 2018 |