| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 3 | 122560202 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122548699 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 3 | 122536861 | non coding transcript exon variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 3 | 122535800 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122499004 | intron variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122426623 | 3 prime UTR variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122414118 | 3 prime UTR variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122411294 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122410027 | 3 prime UTR variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122409619 | intron variant | G/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122405001 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122388388 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122382060 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122380747 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 3 | 122370512 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122369259 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122361900 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 3 | 122329797 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122321763 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122321215 | upstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 122320183 | downstream gene variant | G/A | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 122318950 | downstream gene variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122313942 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 122311615 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 122307242 | regulatory region variant | C/G | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |