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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 4 | 169590736 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 21 | 31668550 | missense variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 11022452 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.080 | 16 | 1792266 | frameshift variant | T/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
2 | 0.925 | 0.040 | 9 | 131197276 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.200 | 2 | 74378104 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
11 | 0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv | 0.740 | 1.000 | 5 | 1995 | 2019 | |||||
|
7 | 0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.080 | 21 | 31667298 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.100 | 1.000 | 15 | 1994 | 2017 | ||||
|
4 | 0.851 | 0.080 | 21 | 31667320 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 21 | 31667359 | missense variant | T/C | snv | 4.8E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2007 | 2015 | |||||
|
4 | 0.851 | 0.080 | 3 | 197960384 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.752 | 0.240 | 11 | 62702499 | missense variant | T/C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
13 | 0.752 | 0.200 | 11 | 62702493 | missense variant | G/A;C | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 13124053 | missense variant | A/T | snv | 1.5E-04 | 7.0E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 2 | 112835572 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.160 | 4 | 169585374 | missense variant | C/A;T | snv | 6.0E-05; 2.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.240 | X | 78029314 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 5 | 74718804 | missense variant | C/T | snv | 5.9E-04 | 4.5E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 |