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 | 14 | 30885890 | missense variant | C/G | snv | 0.56 | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 8 | 62972541 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 65271097 | intergenic variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 8 | 19458576 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 22551320 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 31559979 | downstream gene variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 97627774 | intron variant | G/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 166284599 | missense variant | G/C;T | snv | 4.0E-06; 2.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 55198762 | intron variant | A/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 8 | 19405853 | missense variant | A/C | snv | 1.5E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 19 | 35756909 | missense variant | C/G;T | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 166251875 | missense variant | C/G;T | snv | 8.5E-05; 2.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 71224215 | missense variant | G/A | snv | 2.3E-05 | 1.9E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 15 | 101178712 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 73435176 | intergenic variant | C/T | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.040 | 0.500 | 4 | 2006 | 2013 | |||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 12 | 2008 | 2020 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 |