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 | 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 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 6 | 11073958 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 11080592 | downstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 11075793 | intron variant | T/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 11018579 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 6 | 11004328 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 13 | 103408241 | intergenic variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 10934138 | intron variant | C/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 18 | 50446052 | intergenic variant | A/G | snv | 5.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 18 | 50502045 | intergenic variant | T/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 61897520 | 3 prime UTR variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 19 | 46293976 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 162925277 | intergenic variant | C/T | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 46291277 | intergenic variant | -/T | delins | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 18 | 50057046 | intron variant | A/C | snv | 1.0E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 61771548 | synonymous variant | C/G;T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 18 | 50386938 | intron variant | T/C | snv | 1.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 60739797 | intron variant | T/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |