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 | 3 | 133543963 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 3 | 133623144 | missense variant | T/C;G | snv | 0.29; 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 133720340 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 118968071 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 118968349 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 8 | 120860224 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 8 | 58423997 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 11 | 16302860 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 133805873 | missense variant | G/C | snv | 0.22 | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 4 | 80246155 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 12 | 89632685 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 28435029 | regulatory region variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 20334054 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 12 | 89665065 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 6 | 126879498 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 63659401 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 17 | 43797377 | downstream gene variant | C/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 55683837 | non coding transcript exon variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 54742025 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 11 | 1873813 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 10 | 18396076 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 1 | 26695422 | intron variant | G/C | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 3 | 136206349 | upstream gene variant | T/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 52796511 | missense variant | A/G | snv | 1.6E-03 | 6.4E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 |