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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.080 | 7 | 80671145 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 8 | 3570011 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
5 | 0.882 | 0.120 | 18 | 26850565 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.120 | 11 | 57237593 | upstream gene variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1 | 119749667 | intron variant | T/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.040 | 0.500 | 4 | 2010 | 2013 | ||||
|
5 | 0.882 | 0.160 | 16 | 11003622 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 17 | 42787442 | synonymous variant | C/A;T | snv | 4.0E-06; 3.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 0.925 | 0.080 | 17 | 80265733 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 10980479 | intergenic variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 17 | 61412532 | non coding transcript exon variant | T/C | snv | 0.74 | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 17 | 10977893 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 11 | 72238621 | 3 prime UTR variant | G/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
4 | 0.882 | 0.120 | 3 | 126347377 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 3 | 47892140 | missense variant | C/T | snv | 1.0E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 3 | 12298768 | intron variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 3 | 53556438 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 132233934 | intron variant | T/C | snv | 0.59 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 0.925 | 0.080 | 2 | 11183150 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.080 | 12 | 20737008 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 14 | 92932705 | missense variant | G/A | snv | 3.1E-02 | 2.3E-02 | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
20 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 11 | 57236870 | synonymous variant | G/A;T | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 |