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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 11 | 108259050 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
1 | 11 | 108307917 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.120 | 16 | 2077476 | non coding transcript exon variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 16 | 2061946 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
22 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 0.947 | 1 | 2003 | 2020 | ||||
|
48 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 0.909 | 1 | 2006 | 2019 | ||||
|
14 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.780 | 0.778 | 1 | 2004 | 2019 | ||||
|
39 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.780 | 1.000 | 1 | 1995 | 2020 | ||||
|
37 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.760 | 0.857 | 1 | 1999 | 2019 | ||||
|
14 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.740 | 1.000 | 1 | 2014 | 2016 | ||||
|
21 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 0.730 | 1.000 | 1 | 2014 | 2017 | |||||
|
1 | 0.827 | 0.160 | 7 | 116771869 | missense variant | C/T | snv | 2.9E-03 | 3.2E-03 | 0.730 | 1.000 | 1 | 2003 | 2014 | |||
|
2 | 0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 | 0.720 | 1.000 | 1 | 2013 | 2017 | |||
|
16 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.720 | 1.000 | 1 | 2004 | 2016 | |||||
|
2 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 0.720 | 1.000 | 1 | 2003 | 2015 | |||
|
30 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.710 | 1.000 | 1 | 2012 | 2014 | |||||
|
2 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.710 | 1.000 | 1 | 2003 | 2007 | |||||
|
2 | 1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2011 | 2014 | |||||
|
1 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2007 | 2017 | |||||
|
29 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2010 | 2014 |