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 | 0.925 | 0.040 | 19 | 54178800 | missense variant | G/C | snv | 0.040 | 1.000 | 4 | 2016 | 2018 | |||||
|
1 | 1.000 | 0.040 | 22 | 43928796 | intron variant | A/G | snv | 0.56 | 0.59 | 0.030 | 1.000 | 3 | 2012 | 2018 | |||
|
3 | 0.882 | 0.040 | 1 | 219275036 | downstream gene variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.040 | 22 | 43998522 | intron variant | C/T | snv | 0.20 | 0.810 | 1.000 | 2 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.040 | 22 | 43964127 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 148708086 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2013 | |||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.040 | 22 | 43972242 | missense variant | A/G | snv | 0.21 | 0.18 | 0.710 | 1.000 | 2 | 2013 | 2018 | |||
|
1 | 1.000 | 0.040 | 3 | 148712467 | intron variant | A/G | snv | 0.44 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.040 | 22 | 43942254 | intron variant | T/C;G | snv | 0.40 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
5 | 0.882 | 0.040 | 8 | 9326721 | intron variant | G/A | snv | 0.87 | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 22 | 44002644 | intron variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.040 | 22 | 43997195 | intron variant | C/T | snv | 0.47 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 99583828 | 3 prime UTR variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 10 | 100035604 | regulatory region variant | T/A;G | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 139784177 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 74006029 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 1635713 | regulatory region variant | C/G;T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 131344938 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 11 | 3147308 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 7 | 28691895 | intron variant | G/A | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 212072166 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 209687741 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |