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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 |
|
0.040 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.827 | 0.160 | 6 | 43755598 | intergenic variant | A/C | snv | 0.88 |
|
0.040 | 1.000 | 4 | 2007 | 2019 | ||||||||
|
0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 |
|
0.020 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.882 | 0.120 | 19 | 29805946 | regulatory region variant | T/C | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.882 | 0.120 | 7 | 152690784 | regulatory region variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.240 | 9 | 21114238 | intergenic variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 6 | 43762018 | intergenic variant | G/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.200 | 6 | 43762907 | regulatory region variant | A/T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.160 | 10 | 36522408 | non coding transcript exon variant | T/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.160 | 9 | 25067733 | intergenic variant | T/C | snv | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.240 | 14 | 56058851 | intergenic variant | G/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 7 | 152684065 | intergenic variant | A/G | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 2 | 221196620 | intergenic variant | C/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 8 | 41311757 | upstream gene variant | T/C | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.120 | 7 | 17339533 | missense variant | G/A | snv | 7.8E-03 | 2.2E-02 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.776 | 0.280 | 10 | 5094459 | missense variant | C/G | snv | 0.50 | 0.45 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.120 | 14 | 104769221 | upstream gene variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |