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 | 21 | 38447907 | intron variant | C/A;T | snv | 0.720 | 1.000 | 3 | 2017 | 2020 | |||||
|
1 | 1.000 | 0.040 | 1 | 214235937 | intergenic variant | T/C;G | snv | 0.710 | 0.500 | 2 | 2017 | 2020 | |||||
|
1 | 1.000 | 0.040 | 13 | 22287782 | intergenic variant | A/G | snv | 0.22 | 0.710 | 0.500 | 2 | 2017 | 2020 | ||||
|
1 | 1.000 | 0.040 | 3 | 30620836 | intron variant | C/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 188995061 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 9 | 34825306 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 121662964 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 20682689 | upstream gene variant | A/G;T | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 57138966 | intron variant | G/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 17 | 1776722 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 74048163 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 17 | 1745208 | missense variant | C/G;T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 12 | 57145019 | missense variant | A/G | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 5 | 83498217 | intron variant | G/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 11 | 68391684 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 20 | 45942678 | intron variant | G/A;T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 154519207 | intron variant | A/G;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 1745008 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 3 | 123733800 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 63480396 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 74045237 | missense variant | G/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 20 | 46010604 | missense variant | G/A | snv | 3.0E-04 | 3.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 8 | 117013406 | intron variant | T/A;G | snv | 0.710 | 1.000 | 2 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48515402 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 20 | 46013279 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |