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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 0.786 | 28 | 1997 | 2015 | ||||
|
7 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2016 | ||||
|
1 | 17 | 63480868 | intron variant | A/G | snv | 0.45 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||||
|
4 | 0.882 | 0.120 | 17 | 63497280 | missense variant | C/T | snv | 4.5E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2004 | |||
|
2 | 17 | 63487006 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 17 | 63477230 | missense variant | G/A | snv | 4.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.882 | 0.040 | 17 | 63479897 | missense variant | G/A;T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.807 | 0.240 | 17 | 63496400 | missense variant | T/C;G | snv | 0.52; 1.2E-05 | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 17 | 63497131 | splice region variant | G/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 17 | 63479853 | missense variant | C/T | snv | 4.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 17 | 63484889 | missense variant | G/A | snv | 3.3E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 17 | 63496874 | missense variant | G/A;T | snv | 2.8E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.882 | 0.040 | 17 | 63488704 | missense variant | G/A | snv | 9.1E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 |