| 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 | 17 | 30838916 | intron variant | C/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 136388707 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 3 | 23139082 | downstream gene variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 124879179 | intron variant | A/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 106029709 | intergenic variant | A/G;T | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 30036780 | intergenic variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 72388262 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 72347090 | intergenic variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 191130580 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 120432437 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 134596249 | upstream gene variant | C/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 136255374 | 5 prime UTR variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 157863678 | intron variant | T/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 191393371 | 3 prime UTR variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 134473096 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 29584923 | intron variant | T/G | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 56633654 | missense variant | G/C | snv | 0.61 | 0.61 | 0.700 | 1.000 | 2 | 2010 | 2014 | |||||
|
2 | 3 | 72343990 | intergenic variant | G/A;C | snv | 0.58 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 141854919 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 33220637 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 37977937 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 62008030 | intron variant | G/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 3 | 141418193 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 99177398 | intergenic variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 157968668 | intron variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2015 | 2015 |