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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 6 | 151653287 | upstream gene variant | C/T | snv | 0.16 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
4 | 0.882 | 0.080 | 6 | 152102770 | 3 prime UTR variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
3 | 0.925 | 0.080 | 6 | 151842614 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 6 | 151719156 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 6 | 151944233 | missense variant | G/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 6 | 151807928 | missense variant | C/T | snv | 3.3E-03 | 3.1E-03 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 6 | 152011735 | synonymous variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 6 | 152125331 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.080 | 6 | 151944323 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.060 | 1.000 | 6 | 2007 | 2015 | |||
|
6 | 0.882 | 0.080 | 6 | 151944218 | missense variant | G/A;C | snv | 4.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.925 | 0.080 | 6 | 151808264 | missense variant | T/C | snv | 4.4E-03 | 4.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.925 | 0.080 | 6 | 151944239 | missense variant | G/C | snv | 3.6E-05 | 3.5E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
6 | 0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 6 | 151808318 | missense variant | C/T | snv | 2.4E-04 | 1.0E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
16 | 0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 | 0.030 | 0.667 | 3 | 2010 | 2016 | ||||
|
4 | 0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
16 | 0.724 | 0.360 | 6 | 152098960 | synonymous variant | G/A | snv | 0.19 | 0.18 | 0.060 | 0.833 | 6 | 2010 | 2016 | |||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.100 | 1.000 | 11 | 2007 | 2020 | ||||
|
5 | 0.851 | 0.280 | 6 | 152061176 | intron variant | G/T | snv | 0.17 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 6 | 152101200 | 3 prime UTR variant | C/T | snv | 0.98 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 6 | 151797984 | intron variant | T/G | snv | 0.35 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 151963323 | intron variant | G/A | snv | 0.80 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.790 | 0.280 | 6 | 151949537 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 6 | 151812052 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 |