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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 43 | 1998 | 2019 | ||||
|
10 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.040 | 1.000 | 4 | 1994 | 2020 | |||||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2017 | 2019 | |||
|
15 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2005 | 2014 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.200 | 18 | 31595152 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.120 | 18 | 31595247 | missense variant | C/A | snv | 6.0E-04 | 3.9E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 1.000 | 0.120 | 18 | 31595160 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 19 | 45778500 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
5 | 0.851 | 0.200 | 19 | 11110753 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.200 | 6 | 170561827 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.200 | 14 | 92096772 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.200 | 12 | 111552304 | missense variant | T/C | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |