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 | 2 | 48419260 | intergenic variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 126160720 | non coding transcript exon variant | G/A | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 5 | 89813933 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 5 | 97740844 | downstream gene variant | T/C | snv | 6.9E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 12 | 94407545 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 2 | 85478554 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 12 | 5902324 | intron variant | C/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 80445429 | intergenic variant | G/A | snv | 5.2E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 33463157 | upstream gene variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 2 | 101413184 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 1 | 202422615 | splice region variant | C/T | snv | 1.5E-04 | 7.0E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1 | 242792261 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 15 | 50708771 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 19 | 406934 | 3 prime UTR variant | C/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 97264684 | intergenic variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 8 | 97270488 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 15 | 51223259 | intron variant | TGAATGAA/-;TGAA;TGAATGAATGAA;TGAATGAATGAATGAA;TGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAA;TGAATGAATGAATGAATGAATGAATGAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | X | 110576840 | intergenic variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 17 | 7642403 | upstream gene variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 182133496 | intron variant | A/C | snv | 1.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 8 | 79608410 | upstream gene variant | G/A | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 2 | 52284656 | intron variant | G/T | snv | 8.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1 | 107003753 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 97270415 | downstream gene variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 8 | 97269961 | downstream gene variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 |