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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 14 | 73170846 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 14 | 73192840 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 14 | 73173623 | synonymous variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 14 | 73198145 | intron variant | G/A;T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 14 | 73136423 | 5 prime UTR variant | C/T | snv | 5.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 14 | 73171031 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 14 | 73198010 | non coding transcript exon variant | T/C | snv | 3.5E-02 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 14 | 73173634 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.080 | 14 | 73186859 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.080 | 14 | 73219191 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 14 | 73192772 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 14 | 73219188 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.080 | 14 | 73173630 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.882 | 0.080 | 14 | 73192745 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||||
|
0.827 | 0.160 | 14 | 73170963 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.120 | 14 | 73173574 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 14 | 73173585 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 14 | 73170974 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.790 | 0.120 | 14 | 73170998 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.080 | 14 | 73198072 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 14 | 73192828 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.763 | 0.160 | 14 | 73198067 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |