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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.120 | 22 | 50744085 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 2 | 203837937 | intergenic variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.120 | 5 | 135951340 | missense variant | T/C | snv | 0.64 | 0.62 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | X | 17719360 | missense variant | C/G;T | snv | 3.5E-05 | 2.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
26 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.030 | 0.333 | 3 | 2005 | 2006 | |||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.020 | 1.000 | 2 | 2002 | 2006 | |||
|
5 | 0.827 | 0.240 | 12 | 6334099 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.851 | 0.200 | 2 | 178112712 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.200 | 1 | 157700500 | 5 prime UTR variant | C/A;G | snv | 5.6E-05; 0.45 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.020 | 0.500 | 2 | 2002 | 2007 | ||||
|
3 | 0.882 | 0.160 | 6 | 30690462 | intron variant | C/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.120 | 12 | 8138526 | 3 prime UTR variant | T/G | snv | 0.25 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 1 | 113815128 | intron variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 31113632 | upstream gene variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.790 | 0.320 | 19 | 17193427 | intron variant | C/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.120 | 11 | 47682026 | missense variant | G/A | snv | 8.7E-05 | 3.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.851 | 0.280 | 20 | 46113425 | upstream gene variant | C/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 29841605 | intergenic variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 29826272 | upstream gene variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
17 | 0.716 | 0.400 | 8 | 18400593 | missense variant | G/A | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
14 | 0.742 | 0.320 | 8 | 18400860 | missense variant | G/A | snv | 5.8E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 |