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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.800 | 0.843 | 51 | 1995 | 2019 | |||
|
3 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 5 | 2003 | 2015 | |||
|
6 | 0.925 | 0.120 | 18 | 60184530 | intergenic variant | A/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||
|
7 | 1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
6 | 1.000 | 0.080 | 1 | 72285502 | intron variant | T/C | snv | 0.62 | 0.800 | 1.000 | 2 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 2 | 24927427 | intergenic variant | A/G | snv | 0.57 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 2 | 646364 | intergenic variant | T/A | snv | 0.82 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 442384 | 3 prime UTR variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 49832684 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 104863366 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 11 | 8640969 | missense variant | T/C | snv | 0.60 | 0.59 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 21 | 21317024 | intron variant | G/A | snv | 4.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 97507492 | intron variant | C/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 2 | 632028 | intergenic variant | C/T | snv | 0.85 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 0.080 | 18 | 60185715 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 1 | 65513597 | intron variant | T/A;C | snv | 0.17 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 14 | 78319734 | intron variant | A/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 19933041 | intergenic variant | A/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 243320452 | intron variant | T/G | snv | 0.11 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 16 | 19923751 | intergenic variant | G/T | snv | 0.11 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 1.000 | 0.080 | 16 | 19924067 | intergenic variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 1.000 | 0.080 | 2 | 629244 | regulatory region variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 20 | 52476457 | intron variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.120 | 3 | 85835000 | intron variant | A/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 |