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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 7 | 111688341 | intergenic variant | A/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 150856517 | missense variant | C/T | snv | 0.26 | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 9 | 29372503 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 0.870 | 1.000 | 10 | 2011 | 2019 | ||||
|
1 | 1 | 3159033 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 12 | 4408974 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||
|
7 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
2 | 1.000 | 0.040 | 6 | 39215694 | intron variant | C/T | snv | 0.20 | 0.800 | 1.000 | 3 | 2013 | 2016 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 0.882 | 0.120 | 17 | 82265743 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.080 | 7 | 150860577 | missense variant | C/G;T | snv | 0.37 | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.040 | 8 | 88535703 | intron variant | C/T | snv | 0.23 | 0.720 | 0.667 | 3 | 2013 | 2017 | ||||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1 | 15222140 | upstream gene variant | G/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 10 | 94254865 | intron variant | C/G | snv | 0.44 | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 2 | 132469969 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 4414290 | intergenic variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 18 | 57511578 | intergenic variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2016 | 2016 |