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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 1 | 94019602 | frameshift variant | -/C | delins | 4.1E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.240 | X | 53634235 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
1 | 6 | 42722120 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||
|
4 | 0.925 | 0.080 | X | 38322921 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
8 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
24 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
7 | 0.827 | 0.080 | 7 | 80671082 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 4 | 89935190 | missense variant | G/A | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
7 | 0.827 | 0.080 | 7 | 80671145 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
10 | 0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.020 | 1.000 | 2 | 2000 | 2006 | ||||
|
15 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | X | 120449056 | stop gained | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
7 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.080 | 22 | 32859351 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
13 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.160 | X | 108681837 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 6 | 43776884 | non coding transcript exon variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 |