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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 10 | 100068504 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 4 | 78667891 | intron variant | C/T | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 35339056 | intergenic variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 7513784 | intergenic variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 7545464 | intergenic variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 68174164 | missense variant | G/A;C | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 78414965 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 54788955 | 3 prime UTR variant | C/A;G;T | snv | 1.2E-05; 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.120 | 21 | 29305751 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 19 | 45317925 | missense variant | T/C | snv | 1.1E-02 | 1.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 14 | 54713435 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 54270639 | downstream gene variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 124922340 | intron variant | T/A | snv | 6.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 7472418 | intron variant | T/C | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | X | 143602181 | regulatory region variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 32705894 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 151643935 | missense variant | C/G | snv | 0.42 | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 2 | 127107524 | upstream gene variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 156529759 | intron variant | A/G | snv | 7.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 39659340 | intergenic variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 65887477 | intron variant | T/C | snv | 2.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 10 | 100177437 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.925 | 0.120 | 17 | 66212167 | missense variant | C/G | snv | 4.8E-02 | 4.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 6 | 117303435 | intron variant | C/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 140337403 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |