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 | 0.925 | 0.120 | 7 | 100103553 | intron variant | G/A | snv | 0.56 | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 6 | 100690714 | intron variant | C/T | snv | 2.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 4 | 100975519 | regulatory region variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 2 | 102162359 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.730 | 0.750 | 4 | 2011 | 2019 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 106088378 | missense variant | G/A | snv | 3.8E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 6 | 106107150 | synonymous variant | G/A | snv | 9.7E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 6 | 106132754 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.752 | 0.440 | 13 | 108269025 | intron variant | C/T | snv | 0.35 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
8 | 0.807 | 0.320 | 13 | 108285104 | intron variant | T/A | snv | 0.21 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 109980955 | missense variant | A/T | snv | 7.3E-02 | 5.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.790 | 0.160 | 12 | 111449855 | 3 prime UTR variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
22 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.710 | 1.000 | 2 | 2011 | 2019 | |||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2012 | 2019 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
4 | 0.851 | 0.240 | 16 | 11254354 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.280 | 16 | 11259447 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 |