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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 4 | 88820118 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 3 | 42261582 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 2 | 648758 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 6 | 34877672 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 6 | 50929538 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 177933618 | missense variant | G/A;C | snv | 4.0E-06; 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 2 | 646803 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 652542 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 643303 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 652247 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 19 | 33418804 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 3 | 42258378 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
8 | 1.000 | 0.080 | 6 | 20686765 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 13 | 18737101 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1.000 | 0.040 | 15 | 67724005 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 9 | 14859403 | missense variant | C/A;T | snv | 5.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 3 | 125594708 | missense variant | G/T | snv | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 2 | 48582005 | missense variant | T/G | snv | 6.8E-05 | 1.2E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 7 | 134201557 | missense variant | G/T | snv | 3.2E-05 | 2.0E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
22 | 0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 1 | 199950846 | intergenic variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 4 | 170869381 | intergenic variant | G/T | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 |