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 | 11 | 10000244 | non coding transcript exon variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
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1 | 11 | 10003336 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 10006354 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 10019339 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 10022557 | intron variant | C/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 100600763 | missense variant | C/G;T | snv | 0.22; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 100613863 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 7 | 100614631 | intron variant | G/A;C | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 100615131 | intron variant | C/T | snv | 0.18 | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 7 | 100616392 | downstream gene variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 100616864 | downstream gene variant | C/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 7 | 100622306 | intron variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 100624244 | intron variant | T/C | snv | 0.91 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 7 | 100627408 | synonymous variant | G/A | snv | 0.18 | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 7 | 100629042 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 100629565 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 100638970 | intron variant | T/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 100639734 | intron variant | T/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.040 | 7 | 100642568 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 7 | 100642673 | intron variant | A/G | snv | 0.65 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
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1 | 7 | 100643148 | 3 prime UTR variant | A/T | snv | 0.88 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
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1 | 7 | 100658605 | upstream gene variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 100668458 | regulatory region variant | T/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
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1 | 7 | 100680659 | 3 prime UTR variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |