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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.080 | 22 | 50721469 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
21 | 0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.020 | 0.500 | 2 | 1998 | 2000 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.925 | 0.120 | 19 | 48966317 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 1998 | 2006 | |||
|
1 | 1 | 231563728 | intron variant | G/C | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.040 | 22 | 38067645 | non coding transcript exon variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.080 | 1 | 231694549 | missense variant | G/A | snv | 0.30 | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 22 | 38059462 | intron variant | T/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 22 | 19942636 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 1 | 231632793 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.040 | 1 | 163063552 | regulatory region variant | A/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.030 | 1.000 | 3 | 2004 | 2008 | |||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.040 | 6 | 15664978 | upstream gene variant | A/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 6 | 15620624 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.776 | 0.120 | 6 | 15627871 | intron variant | T/C | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
3 | 0.925 | 0.040 | 13 | 105545886 | intergenic variant | T/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.695 | 0.400 | 7 | 24283791 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2009 | 2009 |