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 | 208545327 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 184051811 | missense variant | G/A | snv | 0.33 | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 65926722 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 73370094 | intergenic variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 62129005 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 119031964 | 3 prime UTR variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 201815159 | intron variant | A/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 8420956 | intron variant | T/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 72285502 | intron variant | T/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 244369912 | intron variant | G/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 154181718 | intron variant | G/A | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 219586391 | regulatory region variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 210504207 | intron variant | A/G | snv | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 74528037 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 31712888 | intergenic variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 96429769 | intergenic variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 98990375 | intron variant | T/C | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 210185988 | intergenic variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 172383850 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 59655756 | intron variant | A/G | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 118321979 | intergenic variant | T/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 219495884 | intergenic variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 34947470 | intergenic variant | G/A | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |