| 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 | 7 | 135485722 | intron variant | C/T | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 74485377 | intron variant | T/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 13 | 52927172 | regulatory region variant | A/G | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 52389351 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 9 | 108310149 | intergenic variant | G/A | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 5805773 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 82227312 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 10 | 99361961 | intron variant | A/G | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 52794278 | intron variant | G/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 125585927 | intron variant | C/T | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 125556427 | intron variant | G/T | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 39527136 | 3 prime UTR variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 6 | 160564494 | intron variant | G/A | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 99418299 | intron variant | G/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 6429357 | intron variant | T/C | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 86655778 | intron variant | G/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 8 | 124550784 | intron variant | T/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 78775175 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 116161170 | intron variant | A/C;G | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 121725216 | intron variant | C/T | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 76861472 | intron variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 11081053 | downstream gene variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 1966633 | intron variant | A/G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 117414434 | regulatory region variant | T/C | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 154682843 | intergenic variant | G/T | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |