| 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 | 134599702 | non coding transcript exon variant | A/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 44901715 | 3 prime UTR variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 19 | 44901805 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 21 | 25911954 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 19 | 44750234 | intron variant | C/G;T | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 9 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44823407 | downstream gene variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44838691 | intergenic variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 45131424 | intron variant | G/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.120 | 19 | 38894892 | intron variant | T/C | snv | 0.68 | 0.67 |
|
0.060 | 0.833 | 6 | 2013 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 44824052 | downstream gene variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 45208340 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 45156878 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.925 | 0.080 | 21 | 25975995 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 19 | 45154228 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 45222848 | intron variant | T/C | snv | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 19 | 44644419 | intron variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 85308630 | intergenic variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.080 | 15 | 63305658 | missense variant | T/A;G | snv | 6.1E-02 | 4.7E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 11 | 27658340 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 19 | 45147128 | 3 prime UTR variant | C/T | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |