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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.880 | 1.000 | 14 | 1993 | 2014 | ||||
|
2 | 0.925 | 0.160 | 7 | 117603730 | missense variant | G/A;C | snv | 5.6E-05; 8.0E-05 | 0.800 | 1.000 | 16 | 1995 | 2013 | ||||
|
4 | 0.851 | 0.160 | 7 | 117535285 | missense variant | T/G | snv | 1.9E-04 | 1.3E-04 | 0.800 | 1.000 | 6 | 1995 | 2007 | |||
|
5 | 0.827 | 0.160 | 7 | 117592032 | missense variant | G/A | snv | 1.0E-04 | 3.8E-04 | 0.800 | 1.000 | 6 | 1995 | 2007 | |||
|
6 | 0.807 | 0.160 | 7 | 117540230 | missense variant | C/T | snv | 5.6E-05 | 9.1E-05 | 0.800 | 1.000 | 6 | 1995 | 2007 | |||
|
2 | 0.925 | 0.160 | 7 | 117592541 | stop gained | C/G;T | snv | 1.3E-04; 5.5E-06 | 0.800 | 1.000 | 6 | 1995 | 2007 | ||||
|
3 | 0.925 | 0.160 | 7 | 117536576 | missense variant | A/G | snv | 1.8E-04 | 1.1E-04 | 0.800 | 1.000 | 6 | 1995 | 2009 | |||
|
4 | 0.851 | 0.160 | 7 | 117534363 | stop gained | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 6 | 1995 | 2007 | ||||
|
2 | 0.925 | 0.160 | 7 | 117535363 | missense variant | T/A | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 6 | 1995 | 2007 | |||
|
3 | 0.882 | 0.200 | 7 | 117530953 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.160 | 7 | 117548758 | missense variant | G/T | snv | 2.6E-04 | 3.3E-04 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.040 | 7 | 117590400 | missense variant | G/C;T | snv | 5.1E-03; 4.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.160 | 7 | 117611646 | missense variant | G/A | snv | 2.6E-04 | 2.4E-04 | 0.800 | 0 | ||||||
|
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 | |||
|
25 | 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 | |||
|
8 | 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 | |||
|
13 | 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 | ||||
|
2 | 0.925 | 0.160 | 7 | 117548630 | intron variant | T/G | snv | 8.6E-03; 5.9E-05 | 9.0E-03 | 0.700 | 1.000 | 10 | 1992 | 2007 | |||
|
1 | 1.000 | 0.040 | 7 | 117530957 | missense variant | C/G;T | snv | 6.0E-05 | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||
|
2 | 0.925 | 0.160 | 7 | 117606695 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||
|
2 | 0.925 | 0.160 | 7 | 117592169 | missense variant | C/A;T | snv | 6.0E-03 | 6.1E-03 | 0.700 | 1.000 | 6 | 1995 | 2007 | |||
|
2 | 0.925 | 0.160 | 7 | 117592588 | missense variant | A/G | snv | 7.7E-04 | 4.4E-04 | 0.700 | 1.000 | 6 | 1995 | 2007 |