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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 14 | 23425971 | missense variant | G/A | snv | 7.0E-06 | 0.720 | 1.000 | 30 | 1994 | 2018 | ||||
|
4 | 0.851 | 0.080 | 14 | 23429278 | missense variant | C/A;G;T | snv | 0.740 | 1.000 | 26 | 1990 | 2018 | |||||
|
4 | 0.851 | 0.080 | 14 | 23429005 | missense variant | G/A;C;T | snv | 0.720 | 1.000 | 25 | 1992 | 2018 | |||||
|
3 | 0.882 | 0.080 | 14 | 23425760 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 22 | 1993 | 2017 | |||||
|
8 | 0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv | 0.730 | 1.000 | 18 | 1994 | 2020 | |||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.740 | 1.000 | 17 | 1998 | 2019 | |||||
|
9 | 0.763 | 0.160 | 14 | 23426834 | missense variant | G/A;C | snv | 0.700 | 1.000 | 16 | 1999 | 2016 | |||||
|
10 | 0.763 | 0.160 | 14 | 23431468 | missense variant | C/A;T | snv | 0.700 | 1.000 | 15 | 1991 | 2017 | |||||
|
5 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 13 | 2003 | 2013 | |||||
|
3 | 0.882 | 0.080 | 14 | 23424107 | missense variant | G/C | snv | 1.4E-05 | 0.720 | 1.000 | 13 | 1992 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 23425970 | missense variant | C/G;T | snv | 0.710 | 1.000 | 13 | 1994 | 2017 | |||||
|
3 | 0.925 | 0.160 | X | 101399747 | 3 prime UTR variant | C/T | snv | 0.700 | 1.000 | 13 | 2002 | 2017 | |||||
|
4 | 0.851 | 0.120 | 14 | 23425980 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1994 | 2017 | |||||
|
4 | 0.851 | 0.080 | 3 | 52453993 | missense variant | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 12 | 2008 | 2018 | ||||
|
4 | 0.851 | 0.080 | 11 | 47339792 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 12 | 1995 | 2014 | |||||
|
4 | 0.851 | 0.080 | 1 | 201365291 | missense variant | C/A;T | snv | 0.710 | 1.000 | 12 | 1999 | 2017 | |||||
|
4 | 0.851 | 0.080 | 1 | 201364369 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 12 | 1996 | 2017 | ||||
|
4 | 0.851 | 0.080 | 11 | 47337729 | frameshift variant | -/C | delins | 2.1E-05 | 0.700 | 1.000 | 11 | 1998 | 2015 | ||||
|
5 | 0.851 | 0.120 | 19 | 55154157 | missense variant | C/T | snv | 4.2E-05 | 0.700 | 1.000 | 11 | 2003 | 2014 | ||||
|
5 | 0.851 | 0.120 | 19 | 55151910 | missense variant | C/T | snv | 7.0E-06 | 0.710 | 0.909 | 11 | 2003 | 2017 | ||||
|
4 | 0.851 | 0.080 | 14 | 23425403 | missense variant | C/G;T | snv | 0.710 | 1.000 | 11 | 2003 | 2019 | |||||
|
5 | 0.827 | 0.080 | 15 | 63061723 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 2003 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2009 | |||||
|
2 | 0.925 | 0.080 | 1 | 201359622 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 1994 | 2011 | |||||
|
2 | 1.000 | 0.040 | 11 | 47339376 | frameshift variant | G/- | delins | 0.700 | 1.000 | 9 | 1998 | 2017 |