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 | 0.040 | 17 | 37259427 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 17 | 37161868 | synonymous variant | T/C | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 17 | 37258316 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 17 | 37258316 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 17 | 37294135 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.040 | 17 | 37118979 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 17 | 37130209 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
17 | 37162308 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
1.000 | 0.080 | 17 | 37161959 | missense variant | C/T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 37248015 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.120 | 17 | 37242036 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 17 | 37242036 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 17 | 37284932 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.080 | 17 | 37284932 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.080 | 17 | 37284932 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.040 | 17 | 37149965 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 37274293 | missense variant | C/T | snv | 2.3E-04 | 9.3E-04 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.080 | 17 | 37374139 | intron variant | A/G | snv | 6.8E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 37119704 | intron variant | A/G | snv | 8.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
17 | 37252940 | synonymous variant | C/T | snv | 0.18 | 0.12 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 17 | 37132758 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 17 | 37139167 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 17 | 37095363 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 17 | 37104485 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 17 | 37098342 | intron variant | T/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |