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 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.200 | 18 | 31405413 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2003 | 2011 | |||||
|
5 | 0.851 | 0.120 | 18 | 31593017 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.827 | 0.240 | 12 | 6333823 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
9 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
1 | 1.000 | 0.040 | 11 | 116836182 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
6 | 0.807 | 0.160 | 4 | 154585795 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
8 | 0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1991 | 2018 | ||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
7 | 0.807 | 0.200 | 12 | 69350192 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.882 | 0.200 | 12 | 69350194 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2007 | 2017 | |||||
|
5 | 0.851 | 0.120 | 18 | 31595247 | missense variant | C/A | snv | 6.0E-04 | 3.9E-04 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
15 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.120 | 18 | 31592992 | missense variant | G/C | snv | 0.030 | 1.000 | 3 | 1999 | 2018 | |||||
|
10 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
6 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.120 | 18 | 31598631 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
8 | 0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 1999 | 2015 | |||||
|
6 | 0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
10 | 0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
7 | 0.807 | 0.200 | 18 | 31592939 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2003 | 2019 |