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 | 16 | 77504106 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 3 | 172208901 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 2 | 66314134 | intergenic variant | T/C | snv | 0.49 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 11 | 120418990 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
1 | 8 | 106951998 | intergenic variant | T/G | snv | 8.7E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 4 | 100539519 | intron variant | T/A | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 9 | 4216751 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 6 | 45554923 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 9 | 13558318 | intron variant | C/T | snv | 0.77 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 16 | 65046836 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 20 | 2799505 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 3 | 50143702 | intron variant | T/G | snv | 0.71 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 15 | 56770420 | intron variant | G/T | snv | 0.46 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 20 | 11169946 | regulatory region variant | T/C | snv | 2.9E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 16 | 70643165 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 8 | 107422472 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 2 | 54433319 | regulatory region variant | G/A | snv | 0.18 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 1 | 165763424 | intron variant | C/T | snv | 0.89 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 3 | 169637231 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 2 | 238402728 | downstream gene variant | C/T | snv | 6.0E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 22 | 37779470 | downstream gene variant | G/T | snv | 0.55 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 20 | 50443654 | intergenic variant | C/T | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 14 | 50188589 | missense variant | C/A;T | snv | 3.7E-05; 1.8E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 9 | 4220832 | intron variant | C/G | snv | 0.24 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 3 | 66807626 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2018 | 2018 |