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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.900 | 1.000 | 16 | 1997 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 169511985 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2011 | 2013 | |||||
|
2 | 1 | 169544768 | intron variant | A/G | snv | 0.92 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
3 | 1 | 169542517 | missense variant | T/C | snv | 0.28 | 0.24 | 0.710 | 1.000 | 3 | 2015 | 2019 | |||||
|
4 | 1 | 169522317 | intron variant | G/A | snv | 0.95 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||
|
1 | 1 | 169521154 | intron variant | G/C | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169528818 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
3 | 1.000 | 0.080 | 1 | 169529596 | intron variant | T/A;C | snv | 0.94 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 1 | 169511883 | downstream gene variant | T/A | snv | 0.91 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169511938 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169531352 | intron variant | C/A | snv | 0.92 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 1.000 | 10 | 1999 | 2019 | ||||
|
7 | 0.807 | 0.160 | 1 | 169541191 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1 | 169542947 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |