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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 15 | 57951485 | downstream gene variant | G/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.080 | 2 | 169363371 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.851 | 0.160 | 11 | 49206068 | stop lost | A/G | snv | 0.28 | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1 | 154157607 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
10 | 0.776 | 0.200 | 17 | 35004556 | 3 prime UTR variant | C/T | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 17 | 28402435 | 3 prime UTR variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 38069747 | 3 prime UTR variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 17 | 28402410 | 3 prime UTR variant | C/T | snv | 0.92 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 18 | 673016 | 3 prime UTR variant | C/T | snv | 0.38 | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 6 | 151101614 | 3 prime UTR variant | A/G;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 19 | 8302274 | 3 prime UTR variant | C/T | snv | 5.5E-02 | 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
12 | 0.763 | 0.320 | 21 | 45534541 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.020 | 1.000 | 2 | 2004 | 2013 | |||
|
1 | 11 | 82838473 | synonymous variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 236852992 | synonymous variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
2 | 1.000 | 0.080 | 13 | 99983123 | synonymous variant | C/T | snv | 8.1E-02 | 7.8E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 6 | 49457808 | synonymous variant | C/T | snv | 0.56 | 0.59 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 3 | 126155545 | non coding transcript exon variant | C/T | snv | 0.83 | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.882 | 68 | 1997 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.667 | 21 | 1999 | 2019 | |||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.100 | 0.857 | 14 | 2002 | 2019 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.100 | 0.846 | 13 | 1999 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.090 | 0.667 | 9 | 1997 | 2018 | |||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.060 | 0.833 | 6 | 2003 | 2018 |