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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 6 | 65196105 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 6 | 65151300 | intron variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 65114686 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
28 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 0.860 | 1.000 | 6 | 2012 | 2019 | |||
|
1 | 1.000 | 0.040 | 8 | 142590254 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 142761483 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 8 | 142682540 | 3 prime UTR variant | G/A | snv | 0.46 | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.080 | 8 | 142684467 | upstream gene variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.160 | 8 | 142682113 | stop gained | G/A | snv | 2.1E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 8 | 142704241 | 3 prime UTR variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 142703082 | 3 prime UTR variant | T/G | snv | 0.42 | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 8 | 142710775 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 142786489 | missense variant | C/G;T | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 142725478 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 142626112 | intergenic variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 8 | 142675619 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 142681665 | 3 prime UTR variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.160 | 8 | 142681306 | intron variant | C/A;G | snv | 0.42; 2.5E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.790 | 0.160 | 8 | 142670817 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 8 | 142605634 | intergenic variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 |