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 | 12 | 83802750 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 14 | 64774231 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 8 | 14659785 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 98852486 | intergenic variant | A/G | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 11 | 79281641 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 14 | 46985783 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 32633875 | intron variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 32630746 | intron variant | T/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 86334993 | splice region variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 5762619 | splice region variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 44742679 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 42868195 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 55608496 | intergenic variant | A/G | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 70422099 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 16 | 82293200 | intergenic variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 21 | 16110067 | intron variant | G/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 21108059 | regulatory region variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 231134890 | intergenic variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 19 | 3797102 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 2565518 | downstream gene variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 12509895 | upstream gene variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 15296311 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 14 | 25660360 | intron variant | G/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |