| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 11 | 8221479 | downstream gene variant | A/G | snv | 0.49 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.882 | 0.080 | 11 | 8256650 | intron variant | C/T | snv | 0.49 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.882 | 0.080 | 11 | 8217092 | intergenic variant | G/A | snv | 0.42 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.882 | 0.080 | 6 | 22125735 | intron variant | T/C;G | snv |
|
0.030 | 1.000 | 3 | 2016 | 2017 | |||||||||
|
0.882 | 0.080 | 6 | 22131700 | intron variant | C/A | snv | 0.58 |
|
0.030 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.882 | 0.080 | 2 | 214809617 | 5 prime UTR variant | A/G | snv | 0.73 | 0.74 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 1995 | 1999 | |||||||||
|
0.851 | 0.080 | 6 | 105080213 | 3 prime UTR variant | T/A | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.080 | 3 | 158460535 | intron variant | G/A | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.851 | 0.080 | 2 | 29209789 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.882 | 0.080 | 5 | 55865274 | intron variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 161743067 | intergenic variant | C/T | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 4 | 41746162 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.807 | 0.080 | 19 | 1223124 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 11 | 43706780 | intron variant | T/C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 11 | 8231502 | intron variant | T/C | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 9 | 134449754 | TF binding site variant | T/C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 26429683 | 3 prime UTR variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.080 | 19 | 7914916 | upstream gene variant | G/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 17 | 49973938 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.851 | 0.080 | 12 | 32731118 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 15 | 74165683 | intron variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 45991557 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.080 | 1 | 15495395 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 |