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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 96838483 | intron variant | A/G | snv | 0.71 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
5 | 96910265 | non coding transcript exon variant | AA/-;A;AAA;AAAA;AAAAA;AAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 96903554 | missense variant | T/A | snv | 4.0E-02 | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
5 | 96798472 | intron variant | T/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 96771195 | intron variant | T/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 96916728 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 96895352 | missense variant | T/C;G | snv | 4.0E-06; 4.1E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 96823820 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 96787817 | intron variant | -/AT;ATAT | delins | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 96784751 | intron variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 96794311 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 96893521 | intron variant | G/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 96820969 | intron variant | G/A | snv | 2.2E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 5 | 96917099 | intron variant | G/A | snv | 0.38 |
|
0.800 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 96917099 | intron variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 96785448 | non coding transcript exon variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 5 | 96908845 | intron variant | C/T | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 5 | 96793809 | synonymous variant | A/G;T | snv | 0.72; 1.2E-05 |
|
0.890 | 1.000 | 1 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 96790605 | missense variant | A/G;T | snv | 0.62 |
|
0.710 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 96784466 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 |