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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.880 | 1.000 | 8 | 1993 | 2014 | ||||
|
3 | 0.882 | 0.160 | 7 | 117642528 | missense variant | G/A;T | snv | 1.3E-03 | 0.720 | 1.000 | 2 | 1999 | 2008 | ||||
|
9 | 0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 | 0.720 | 1.000 | 2 | 2007 | 2011 | |||
|
8 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 0.710 | 1.000 | 1 | 1998 | 1998 | ||||
|
2 | 0.925 | 0.160 | 7 | 117509089 | missense variant | C/T | snv | 1.5E-03 | 4.3E-03 | 0.710 | 1.000 | 1 | 1999 | 1999 | |||
|
6 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 0.710 | 1.000 | 1 | 1998 | 1998 | ||||
|
2 | 0.925 | 0.160 | 7 | 117587820 | missense variant | A/G | snv | 3.5E-03 | 1.2E-03 | 0.710 | 1.000 | 1 | 2013 | 2013 | |||
|
11 | 0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 0.080 | 1.000 | 8 | 1998 | 2018 | |||
|
9 | 0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins | 0.020 | 1.000 | 2 | 2007 | 2011 | |||||
|
2 | 0.882 | 0.160 | 7 | 117559594 | missense variant | T/A;C;G | snv | 9.4E-04 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
2 | 0.925 | 0.040 | 7 | 117664776 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 19 | 41352695 | missense variant | T/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 117535269 | missense variant | G/A | snv | 2.3E-04 | 4.5E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
39 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
9 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 7 | 117611649 | missense variant | C/T | snv | 4.8E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.160 | 7 | 117627758 | missense variant | T/G | snv | 5.0E-03 | 5.7E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 7 | 117540242 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 0.925 | 0.160 | 7 | 117548746 | missense variant | C/A;T | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 7 | 117594961 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 7 | 117611682 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 7 | 117530989 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 7 | 117642588 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 7 | 117665523 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |