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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 5 | 111100751 | intron variant | C/T | snv | 0.53 | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.080 | 5 | 139383837 | intron variant | T/C | snv | 0.48 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
22 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.160 | 3 | 193637313 | intron variant | T/A;C | snv | 0.42 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 7 | 151181233 | synonymous variant | G/A | snv | 5.0E-04 | 3.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 6 | 32185657 | 3 prime UTR variant | C/A | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.040 | 7 | 116508316 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 2 | 38071007 | missense variant | A/G;T | snv | 0.63 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 51725011 | intron variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 3 | 172315221 | intron variant | C/G | snv | 5.7E-03 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 5 | 111103810 | missense variant | A/C;G | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 160681172 | frameshift variant | C/-;CC;CCC | delins | 5.2E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.200 | 22 | 42126611 | missense variant | C/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 13 | 95210754 | missense variant | C/A | snv | 4.9E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 19 | 49060867 | non coding transcript exon variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 151181278 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 3 | 123150194 | intron variant | C/T | snv | 8.6E-02 | 6.6E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
8 | 0.790 | 0.360 | 7 | 150990599 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 |