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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.070 | 0.857 | 7 | 2002 | 2015 | |||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2002 | 2014 | ||||
|
9 | 0.776 | 0.240 | 10 | 52771466 | missense variant | C/T | snv | 3.2E-02 | 7.9E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.080 | 15 | 39582202 | missense variant | G/C | snv | 6.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 1.000 | 3 | 46373218 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 3 | 46373708 | missense variant | G/A;T | snv | 3.2E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.160 | 11 | 32389228 | intron variant | A/G | snv | 0.35 | 0.35 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 11 | 32399873 | intron variant | T/C | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.160 | 11 | 32436129 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.160 | 11 | 32438918 | non coding transcript exon variant | G/A | snv | 8.3E-02 | 0.16 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 12 | 123586856 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
4 | 0.851 | 0.120 | 17 | 35878529 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 1 | 109923705 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.160 | 22 | 39081561 | missense variant | A/G | snv | 5.9E-02 | 0.14 | 0.040 | 1.000 | 4 | 2008 | 2018 | |||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
1 | 1.000 | 12 | 47842624 | 3 prime UTR variant | TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT | delins | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 0.925 | 0.080 | 15 | 63305658 | missense variant | T/A;G | snv | 6.1E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 11 | 5679850 | missense variant | C/A;T | snv | 8.0E-06; 9.5E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
5 | 0.925 | 7 | 25568789 | TF binding site variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.925 | 7 | 126684537 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
9 | 0.827 | 0.080 | 15 | 33613209 | missense variant | A/G | snv | 0.23 | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |