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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.800 | 1.000 | 7 | 2010 | 2019 | ||||
|
5 | 16 | 88787321 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||||
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.800 | 1.000 | 3 | 2010 | 2019 | ||||
|
3 | 16 | 264781 | intron variant | G/A;T | snv | 2.9E-05; 6.5E-03 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||||
|
1 | 18 | 46139716 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2016 | |||||||
|
4 | 16 | 260381 | intron variant | G/A;C | snv | 1.1E-02 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||||
|
2 | 1 | 203682799 | 5 prime UTR variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1 | 8 | 42537799 | non coding transcript exon variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
7 | 6 | 26107235 | downstream gene variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
1 | 16 | 88783013 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 16 | 88789676 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
3 | 6 | 16287961 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2016 | |||||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||||
|
1 | 1 | 203685993 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
12 | 0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 1 | 158642758 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2012 | |||||||
|
7 | 1.000 | 0.080 | 19 | 4502189 | 3 prime UTR variant | T/C;G | snv | 0.51; 1.8E-05 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 6 | 109304347 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.040 | 8 | 47177908 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 6 | 135217501 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 53010234 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 0.925 | 0.120 | 6 | 25626988 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |