| 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 | 88791970 | intron variant | C/T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 7 | 2010 | 2019 | ||||||||
|
6 | 43790159 | downstream gene variant | C/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
18 | 49754040 | intergenic variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 75741470 | intergenic variant | C/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
16 | 56983090 | intron variant | T/G | snv | 0.10 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
1.000 | 0.040 | 17 | 2525214 | intergenic variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
3 | 52495883 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 157077625 | upstream gene variant | G/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 3 | 186116710 | intron variant | A/T | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
11 | 116794363 | upstream gene variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 45517829 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2013 | 2018 | |||||||||||
|
1.000 | 0.080 | 5 | 56565774 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 56565959 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
8 | 20071071 | intergenic variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
7 | 73584775 | intergenic variant | T/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 127131494 | intron variant | C/G | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
6 | 127115955 | intron variant | T/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.160 | 6 | 32477914 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 15 | 57617966 | intron variant | G/A;C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
6 | 34700858 | upstream gene variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |