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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 10 | 112153464 | 3 prime UTR variant | T/C | snv | 0.69 | 0.700 | 1.000 | 4 | 2015 | 2019 | ||||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2017 | 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 | 2017 | 2019 | ||||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
7 | 1.000 | 0.080 | 11 | 61811991 | intron variant | A/G | snv | 0.40 | 0.28 | 0.700 | 1.000 | 3 | 2015 | 2019 | |||
|
9 | 1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||
|
6 | 8 | 9323885 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
11 | 1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 | 0.700 | 1.000 | 3 | 2018 | 2019 | |||
|
20 | 0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
2 | 20 | 17863324 | intergenic variant | C/A | snv | 0.53 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 1 | 55058182 | missense variant | G/A;C | snv | 7.2E-03 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
2 | 20 | 41182635 | 3 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2010 | 2019 | |||||||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2009 | 2018 | |||||
|
2 | 1 | 234717521 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
5 | 16 | 56953457 | intergenic variant | T/C | snv | 0.26 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.700 | 1.000 | 3 | 2015 | 2019 | |||
|
2 | 2 | 43848344 | non coding transcript exon variant | T/C | snv | 7.3E-02 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
18 | 0.851 | 0.120 | 5 | 75329662 | intron variant | C/A | snv | 0.38 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
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 | |||
|
3 | 7 | 44544952 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
5 | 15 | 58431280 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
4 | 1 | 62612551 | intron variant | A/T | snv | 0.32 | 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 |