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 | X | 137178554 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | X | 137182822 | intergenic variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 5 | 150059725 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 5 | 150249081 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 5 | 150261592 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 6 | 151842832 | intron variant | A/G | snv | 1.0E-03 | 3.8E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 161277998 | intergenic variant | T/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 4 | 18004466 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 3 | 190582215 | intron variant | A/G | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
2 | 0.925 | 0.080 | 1 | 226883817 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.160 | 17 | 2312964 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.080 | 2 | 25262866 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
5 | 0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.070 | 0.714 | 7 | 2008 | 2020 | |||
|
2 | 0.925 | 0.120 | 11 | 27658411 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.060 | 0.667 | 6 | 2008 | 2020 | ||||
|
1 | 1.000 | 0.040 | 6 | 31497781 | intron variant | G/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 1.000 | 2 | 2016 | 2019 |