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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1 | 154157607 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 | ||||
|
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 | |||
|
3 | 0.925 | 0.160 | 10 | 102604895 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 10 | 34202922 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 236884786 | intron variant | A/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 26725589 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 6 | 49444720 | missense variant | C/G;T | snv | 0.32 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.320 | 11 | 49206785 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2004 | 2010 | |||||
|
1 | 11 | 72221671 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
|
16 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 0.030 | 1.000 | 3 | 2003 | 2010 | ||||
|
1 | 10 | 133297981 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 1 | 84100906 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | |||
|
2 | 1.000 | 1 | 115682372 | missense variant | G/A | snv | 2.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 10 | 34196864 | intron variant | T/C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
13 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 14 | 64453947 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 4 | 109539620 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 82838473 | synonymous variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 160419339 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 6 | 150905744 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 |