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 | 12 | 117247093 | intron variant | T/G | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 12 | 117318980 | intron variant | G/C | snv | 9.4E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 6 | 35420123 | splice region variant | G/A | snv | 3.6E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 6 | 35410958 | intron variant | G/T | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 7941298 | intron variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 8 | 10785654 | intron variant | C/G;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 8 | 19967385 | downstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 8 | 20071071 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 22 | 2009 | 2019 | ||||
|
3 | 7 | 73584775 | intergenic variant | T/G | snv | 0.16 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 21 | 25967316 | intron variant | C/T | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 6014611 | intron variant | T/C | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 110337315 | regulatory region variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 47787242 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 22 | 35377961 | upstream gene variant | A/G | snv | 3.7E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 94602128 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 21227115 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 6 | 127115955 | intron variant | T/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 40289342 | missense variant | T/C | snv | 8.4E-02 | 3.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 2 | 21055901 | intergenic variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 152101320 | 3 prime UTR variant | T/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 6 | 152062578 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 6 | 152021653 | intron variant | G/T | snv | 1.1E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 151971471 | intron variant | A/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
9 | 0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2013 | 2013 |