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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.060 | 0.833 | 6 | 2010 | 2017 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 0.800 | 5 | 2006 | 2012 | ||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.040 | 0.750 | 4 | 2010 | 2017 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 0.750 | 4 | 2005 | 2017 | |||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2011 | 2017 | |||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2015 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.160 | 7 | 100722313 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 1761175 | upstream gene variant | T/A;C | snv | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
4 | 0.851 | 0.280 | 6 | 43770057 | upstream gene variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||
|
18 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
5 | 0.851 | 0.200 | 6 | 43774842 | non coding transcript exon variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
10 | 0.790 | 0.200 | 7 | 150997269 | intron variant | GGGGGTGAGGAAGTCTAGACCTGCTGCG/A | delins | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 10 | 48602322 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 8 | 5306434 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 7 | 82151406 | intron variant | T/A | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 18 | 43695432 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
5 | 0.851 | 0.160 | 17 | 63497137 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 |