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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2009 | 2014 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 8 | 124864572 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 8 | 125432546 | intron variant | G/A | snv | 0.30 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | 8 | 125436547 | 3 prime UTR variant | G/A | snv | 0.25 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | 8 | 125469233 | intron variant | A/T | snv | 0.69 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 3 | 12618580 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 129536277 | missense variant | C/A;T | snv | 8.0E-06; 5.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.020 | 1.000 | 2 | 2006 | 2012 | |||
|
7 | 0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.740 | 1.000 | 5 | 2010 | 2015 | ||||
|
2 | 0.925 | 0.120 | 9 | 133071212 | synonymous variant | C/A;T | snv | 0.11 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.740 | 1.000 | 4 | 2009 | 2015 | |||||
|
2 | 0.925 | 0.120 | 9 | 133474633 | intron variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 18 | 13366863 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.120 | 6 | 1339954 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 3 | 138684714 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2003 | 2015 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2003 | 2015 |