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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.200 | 3 | 37007004 | missense variant | G/C | snv | 2.1E-04 | 1.9E-04 | 0.720 | 1.000 | 12 | 1996 | 2008 | |||
|
4 | 0.925 | 0.160 | 3 | 37050628 | missense variant | T/A;C | snv | 0.700 | 1.000 | 11 | 1996 | 2008 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.700 | 1.000 | 11 | 1996 | 2008 | |||||
|
1 | 1.000 | 0.080 | 3 | 37020399 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 0.700 | 1.000 | 11 | 1996 | 2008 | |||
|
4 | 0.882 | 0.160 | 3 | 37014485 | missense variant | G/A;T | snv | 0.700 | 1.000 | 11 | 1996 | 2008 | |||||
|
4 | 0.925 | 0.160 | 3 | 37000977 | missense variant | G/A;C | snv | 0.700 | 1.000 | 11 | 1996 | 2008 | |||||
|
2 | 0.925 | 0.120 | 3 | 37047640 | missense variant | A/C;G;T | snv | 3.5E-03; 8.4E-05 | 0.700 | 1.000 | 11 | 1996 | 2008 | ||||
|
1 | 1.000 | 0.080 | 3 | 37028789 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 11 | 1996 | 2008 | ||||
|
1 | 1.000 | 0.080 | 3 | 37017518 | missense variant | A/G | snv | 2.5E-04 | 1.3E-04 | 0.700 | 1.000 | 11 | 1996 | 2008 | |||
|
1 | 1.000 | 0.080 | 3 | 37047589 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1996 | 2008 | |||||
|
7 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
6 | 0.851 | 0.160 | 3 | 36996702 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 37008858 | frameshift variant | AA/-;A;AAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 36996663 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37014533 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 37047520 | missense variant | A/G | snv | 1.2E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.090 | 0.778 | 9 | 2010 | 2019 | ||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.080 | 1.000 | 8 | 2007 | 2014 | ||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.050 | 0.800 | 5 | 2007 | 2017 | ||||
|
10 | 0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 | 0.050 | 1.000 | 5 | 2002 | 2008 | ||||
|
8 | 0.827 | 0.160 | 3 | 37047639 | missense variant | AA/GC | mnv | 0.030 | 1.000 | 3 | 2011 | 2014 | |||||
|
6 | 0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||
|
17 | 0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 | 0.020 | 0.500 | 2 | 1998 | 2015 | |||
|
3 | 0.925 | 0.080 | 3 | 37012090 | missense variant | C/G;T | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 37050622 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |