| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 4 | 48684940 | intron variant | G/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 97303497 | intergenic variant | C/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 9 | 106179228 | intron variant | A/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 171134461 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 11893261 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 | 0.800 | 1.000 | 2 | 2012 | 2013 | |||
|
1 | 2 | 81524000 | intergenic variant | C/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 2 | 81441684 | intergenic variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 16 | 53874572 | intron variant | T/C | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 89335895 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 11 | 32520238 | intergenic variant | G/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
1 | 9 | 32975212 | non coding transcript exon variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 121753584 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 11923062 | upstream gene variant | C/T | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||||
|
1 | 20 | 62901687 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 5727864 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 198756917 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 117833264 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 183845137 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 60716842 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 10 | 68464775 | intron variant | C/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.120 | 11 | 30204809 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.882 | 0.120 | 11 | 30204981 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 15 | 41359371 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 75646612 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 |