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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 3 | 119121264 | intron variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 119125638 | intron variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 92580298 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.925 | 0.120 | 6 | 25784253 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 3 | 48342403 | regulatory region variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 25872956 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 119132020 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123055777 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 9 | 14841389 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 5 | 24072508 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 8 | 1203198 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 8 | 1203431 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 233740656 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 2 | 233744071 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 4 | 29332870 | intergenic variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 4 | 29322410 | intergenic variant | T/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 6 | 77349634 | intergenic variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.080 | 12 | 68253559 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 8 | 117750197 | intergenic variant | T/C | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 57885718 | 5 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 4 | 100649444 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 2 | 233750415 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 18 | 77568791 | intergenic variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |