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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.200 | 18 | 31405413 | intron variant | G/A | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.120 | 18 | 31593017 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.827 | 0.240 | 12 | 6333823 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1994 | 1994 | |||||||||
|
1.000 | 0.040 | 11 | 116836182 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.807 | 0.160 | 4 | 154585795 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.807 | 0.200 | 12 | 69350192 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.882 | 0.200 | 12 | 69350194 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 18 | 31595247 | missense variant | C/A | snv | 6.0E-04 | 3.9E-04 |
|
0.010 | 1.000 | 1 | 1994 | 1994 | |||||||
|
0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 18 | 31598631 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 1 | 32014083 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 18 | 31592996 | missense variant | C/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 2 | 127129099 | intergenic variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 121312342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 162183437 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 2 | 8779781 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 |