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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 4 | 88791970 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
11 | 0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
3 | 1 | 62458777 | non coding transcript exon variant | C/T | snv | 0.39 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 1 | 111554040 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
11 | 6 | 43790159 | downstream gene variant | C/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||||
|
4 | 0.925 | 0.080 | 17 | 39651445 | intron variant | A/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 18 | 22330221 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 1 | 62641855 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 18 | 23299253 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 18 | 268992 | non coding transcript exon variant | C/A | snv | 0.24 | 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 | ||||
|
1 | 16 | 68097829 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
7 | 0.882 | 0.120 | 16 | 53766065 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 17 | 47285851 | intron variant | A/T | snv | 6.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 42752474 | upstream gene variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 52495883 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 3 | 30657290 | intron variant | G/A | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 157077625 | upstream gene variant | G/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 11 | 116794363 | upstream gene variant | C/T | snv | 0.17 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||||
|
1 | 5 | 156967430 | upstream gene variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 5 | 56565774 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 5 | 56565959 | intron variant | C/T | snv | 0.20 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
3 | 10 | 89004160 | intron variant | T/C | snv | 9.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 |