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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 16 | 71321332 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.200 | 17 | 19909228 | missense variant | T/C | snv | 0.37 | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.080 | 15 | 85579644 | missense variant | A/C | snv | 2.2E-02 | 2.2E-02 | 0.020 | 1.000 | 2 | 2006 | 2007 | |||
|
1 | 1.000 | 0.080 | 15 | 85735078 | missense variant | G/A | snv | 0.22 | 0.19 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 15 | 85581324 | missense variant | G/A;C | snv | 0.61; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 7 | 92083384 | missense variant | A/G | snv | 0.36 | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 5 | 73892052 | missense variant | G/A | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
22 | 0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 | 0.040 | 1.000 | 4 | 2006 | 2006 | |||
|
17 | 0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 | 0.040 | 1.000 | 4 | 2006 | 2006 | ||||
|
19 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 0.030 | 1.000 | 3 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.200 | 13 | 49630839 | missense variant | C/A;T | snv | 3.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 11 | 108257484 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
12 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
11 | 0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.080 | 2 | 214767531 | missense variant | C/A;T | snv | 1.6E-05; 0.37 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins | 0.020 | 1.000 | 2 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 17 | 43082453 | synonymous variant | A/G | snv | 0.35 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.160 | 17 | 43044391 | 3 prime UTR variant | G/A | snv | 0.34 | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 17 | 43104223 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |