| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 17247645 | 5 prime UTR variant | A/T | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
7 | 17240889 | intron variant | A/C | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 11021677 | missense variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 203166324 | 3 prime UTR variant | C/T | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 11037367 | intron variant | G/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 40099614 | intron variant | G/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
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 | |||||||||||
|
15 | 74747272 | upstream gene variant | T/- | del | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
12 | 11092126 | missense variant | C/G | snv | 0.69 | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
12 | 11091595 | missense variant | T/C | snv | 0.57 | 0.28 |
|
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 | 16 | 9976688 | intron variant | C/T | snv | 0.11 |
|
0.020 | 0.500 | 2 | 2014 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.040 | 19 | 38499993 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.040 | 8 | 86507057 | missense variant | T/A | snv | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 178481702 | intergenic variant | T/A | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 19 | 38494621 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.040 | 19 | 38499655 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 0.040 | 19 | 38499731 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.040 | 19 | 38584976 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 15 | 74741059 | intergenic variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 22 | 24430704 | intron variant | T/C | snv | 0.62 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 22 | 24447626 | intron variant | C/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 15 | 40740173 | missense variant | C/G;T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 4 | 15735478 | intron variant | C/A;G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |