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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins | 0.010 | < 0.001 | 1 | 1992 | 1992 | |||||
|
5 | 0.851 | 0.320 | 7 | 117627537 | stop gained | C/T | snv | 5.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
9 | 0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 | 0.010 | < 0.001 | 1 | 1992 | 1992 | |||
|
8 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 0.020 | 1.000 | 2 | 1995 | 1995 | ||||
|
8 | 0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
3 | 0.925 | 0.160 | 7 | 117587799 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
5 | 0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
16 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.882 | 0.040 | 19 | 18075808 | missense variant | T/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.040 | 2 | 112830530 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
10 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 0.030 | 1.000 | 3 | 2005 | 2009 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.120 | 2 | 112831216 | non coding transcript exon variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 19 | 41352886 | synonymous variant | G/A | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.752 | 0.360 | 10 | 79946568 | missense variant | A/G | snv | 0.47 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
9 | 0.827 | 0.200 | 7 | 117614699 | missense variant | G/C | snv | 4.0E-04 | 3.2E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.160 | 7 | 117548798 | missense variant | T/C | snv | 2.0E-04 | 4.9E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
5 | 0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |