| 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 | 102840757 | intron variant | A/G | snv | 7.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 102848147 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 10 | 102856906 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
8 | 102871402 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 102878584 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 103076162 | synonymous variant | C/T | snv | 0.12 | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
11 | 10328991 | intron variant | G/A | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2011 | 2017 | ||||||||||
|
11 | 10334568 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 103419975 | intergenic variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
10 | 103918139 | 5 prime UTR variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 103918153 | 5 prime UTR variant | C/A;T | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 103947673 | intergenic variant | A/G | snv | 5.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
14 | 104153856 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
20 | 10507905 | intron variant | TA/-;TATA;TATATA;TATATATA;TATATATATA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 105135184 | intron variant | C/T | snv | 8.4E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 105872896 | intron variant | A/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 10594635 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 105990585 | intron variant | G/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 106293321 | intergenic variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 106773623 | upstream gene variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
9 | 106907735 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 107040156 | intron variant | G/A | snv | 6.8E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 107211115 | intergenic variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 10729498 | non coding transcript exon variant | G/C;T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |