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 | 1.000 | 0.040 | 1 | 157797572 | intron variant | C/T | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 1 | 218406643 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 18 | 10394467 | downstream gene variant | T/C | snv | 0.70 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.160 | 6 | 32427949 | intergenic variant | A/G | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 32421478 | intergenic variant | C/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.882 | 0.120 | 6 | 32444658 | 3 prime UTR variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 75963525 | intron variant | A/G | snv | 9.2E-02 | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.040 | 6 | 32411324 | upstream gene variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 67195965 | intron variant | T/G | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 32450254 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 |