| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 76476862 | intron variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 73673773 | intron variant | T/C;G | snv | 0.21; 3.9E-05 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 73641201 | missense variant | A/G | snv | 0.21 | 0.31 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||
|
0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
15 | 45426989 | upstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
4 | 76489165 | intron variant | C/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 20 | 46659814 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 5 | 177390635 | intron variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 39387196 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
4 | 76492991 | intron variant | T/A;C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 34509720 | regulatory region variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 21 | 43992991 | downstream gene variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
8 | 86234980 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 10974358 | intron variant | T/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 11559984 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 32578102 | intron variant | C/G | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 68541379 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 136218015 | intron variant | T/C;G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 109348511 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 80411775 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 243324884 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 15586492 | non coding transcript exon variant | G/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 18497405 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |