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 | 0.160 | 6 | 121446897 | missense variant | A/C | snv | 0.810 | 1.000 | 2 | 2005 | 2006 | |||||
|
2 | 0.925 | 0.160 | 6 | 121446966 | missense variant | C/T | snv | 0.810 | 1.000 | 2 | 2006 | 2019 | |||||
|
1 | 1.000 | 0.160 | 6 | 121447493 | missense variant | G/T | snv | 0.810 | 1.000 | 2 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.160 | 6 | 121447073 | missense variant | C/A | snv | 0.810 | 1.000 | 2 | 2004 | 2006 | |||||
|
1 | 1.000 | 0.160 | 6 | 121446899 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 6 | 121446908 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.160 | 6 | 121447428 | missense variant | A/C | snv | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 6 | 121446879 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 6 | 121447133 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 6 | 121447464 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 6 | 121447290 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.160 | 6 | 121446912 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 6 | 121447153 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.160 | 6 | 121447236 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.882 | 0.160 | 6 | 121447287 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 6 | 121446878 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 6 | 121447452 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.320 | 13 | 20189407 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 6 | 121446944 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 6 | 121447074 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.160 | 1 | 34794440 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.160 | 19 | 41352864 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |