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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.080 | 0.750 | 8 | 2004 | 2020 | ||||
|
8 | 0.776 | 0.440 | 5 | 132060785 | missense variant | C/T | snv | 0.29 | 0.33 | 0.040 | 1.000 | 4 | 2004 | 2014 | |||
|
5 | 0.851 | 0.160 | 5 | 148101392 | missense variant | A/G | snv | 0.52 | 0.44 | 0.030 | 1.000 | 3 | 2004 | 2005 | |||
|
21 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 0.030 | 1.000 | 3 | 2004 | 2017 | |||
|
18 | 0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2011 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.020 | 1.000 | 2 | 2004 | 2006 | |||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | < 0.001 | 2 | 2004 | 2006 | ||||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 19 | 6677978 | synonymous variant | G/A;C | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
26 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 12 | 8604885 | missense variant | G/A;T | snv | 0.60 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 12 | 117330605 | synonymous variant | G/A;C | snv | 4.5E-05 | 9.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 5 | 132674129 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 11 | 67586109 | synonymous variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 11 | 60852184 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
10 | 0.776 | 0.280 | 4 | 24799565 | missense variant | C/T | snv | 8.8E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.030 | 1.000 | 3 | 2005 | 2014 | |||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.030 | 1.000 | 3 | 2005 | 2011 | |||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.030 | 0.333 | 3 | 2005 | 2019 | |||
|
6 | 0.807 | 0.360 | 12 | 117268082 | synonymous variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
1 | 1.000 | 0.080 | 16 | 50725636 | intron variant | A/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 9 | 115046506 | missense variant | T/A | snv | 0.44 | 0.47 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 5 | 157033084 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.882 | 0.160 | 5 | 148100464 | missense variant | G/A | snv | 0.52 | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 |