| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 11021677 | missense variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 11037367 | intron variant | G/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 11091595 | missense variant | T/C | snv | 0.57 | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
12 | 11092126 | missense variant | C/G | snv | 0.69 | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 4 | 15735478 | intron variant | C/A;G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
7 | 17240889 | intron variant | A/C | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
7 | 17247645 | 5 prime UTR variant | A/T | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
1.000 | 0.040 | 4 | 178481702 | intergenic variant | T/A | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 203166324 | 3 prime UTR variant | C/T | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.120 | 1 | 237377386 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 1 | 237377426 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 1 | 237441382 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 1 | 237791441 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.040 | 22 | 24430704 | intron variant | T/C | snv | 0.62 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
22 | 24439073 | intron variant | TTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 |
|
0.070 | 1.000 | 7 | 2007 | 2019 | |||||||
|
1.000 | 0.040 | 22 | 24447626 | intron variant | C/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.120 | 19 | 38444211 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.882 | 0.080 | 19 | 38448712 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 |