Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 1 | 62458777 | non coding transcript exon variant | C/T | snv | 0.39 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 6 | 2010 | 2019 | ||||
|
1 | 3 | 58315733 | 5 prime UTR variant | A/G | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 21 | 26125180 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 49592028 | 3 prime UTR variant | T/C | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1 | 62641855 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 5 | 75741470 | intergenic variant | C/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 16 | 3651823 | 5 prime UTR variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 16 | 56983090 | intron variant | T/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 64720823 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 5 | 75615045 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 3 | 127797551 | intron variant | C/T | snv | 7.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 122539209 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 11 | 116794363 | upstream gene variant | C/T | snv | 0.17 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||||
|
1 | 4 | 68477569 | missense variant | A/G | snv | 0.23 | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 1.000 | 0.080 | 11 | 61856709 | non coding transcript exon variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 10 | 45517829 | intron variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
1 | 4 | 68472593 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 31252875 | intergenic variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 9 | 2010 | 2019 | ||||
|
6 | 22 | 35377961 | upstream gene variant | A/G | snv | 3.7E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.851 | 0.080 | 13 | 32366208 | intron variant | C/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 |