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 | 19 | 46291914 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46288677 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 4 | 26922822 | intron variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 19 | 46294033 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 19 | 46294038 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 10 | 85193571 | non coding transcript exon variant | A/G | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 10922405 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10989709 | synonymous variant | G/A | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 6 | 10932336 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 6 | 10939591 | intron variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10952103 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10926709 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10933145 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10978007 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 6 | 10939156 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10982419 | 3 prime UTR variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10952010 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10954307 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10956456 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 96464584 | intron variant | A/T | snv | 9.2E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 31105872 | intron variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 238186781 | non coding transcript exon variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 6 | 11082691 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 6 | 98014625 | intron variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 14 | 28647489 | intergenic variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 |