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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 7 | 107690203 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-04 | 0.800 | 1.000 | 33 | 1998 | 2019 | ||||
|
4 | 0.925 | 0.160 | 7 | 107690200 | missense variant | G/A;C | snv | 1.0E-04; 8.0E-06 | 0.800 | 1.000 | 25 | 1998 | 2019 | ||||
|
4 | 0.925 | 0.160 | 7 | 107690220 | missense variant | A/C;G | snv | 2.0E-04; 4.0E-06 | 0.800 | 1.000 | 24 | 1998 | 2019 | ||||
|
4 | 0.925 | 0.160 | 7 | 107690148 | missense variant | A/T | snv | 4.0E-06 | 0.800 | 1.000 | 19 | 1998 | 2019 | ||||
|
3 | 0.882 | 0.160 | 7 | 107689156 | stop gained | A/G;T | snv | 0.800 | 1.000 | 16 | 1998 | 2017 | |||||
|
3 | 0.925 | 0.160 | 7 | 107689166 | missense variant | C/T | snv | 0.800 | 1.000 | 16 | 1998 | 2017 | |||||
|
3 | 0.925 | 0.160 | 7 | 107700135 | missense variant | A/G | snv | 1.6E-05 | 0.800 | 1.000 | 14 | 1998 | 2017 | ||||
|
2 | 0.925 | 0.160 | 7 | 107694650 | missense variant | C/A | snv | 0.800 | 1.000 | 13 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.160 | 7 | 107663400 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.800 | 1.000 | 13 | 1998 | 2017 | ||||
|
4 | 0.851 | 0.240 | 7 | 107689054 | missense variant | T/A;C | snv | 4.0E-06; 8.6E-04 | 0.800 | 1.000 | 12 | 1998 | 2017 | ||||
|
3 | 0.925 | 0.160 | 7 | 107702050 | missense variant | T/A | snv | 0.800 | 1.000 | 12 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.120 | 7 | 107672228 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.160 | 7 | 107690178 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 1998 | 2017 | |||||
|
4 | 0.851 | 0.160 | 7 | 107661725 | missense variant | C/A;G | snv | 0.700 | 1.000 | 12 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.160 | 7 | 107674187 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 12 | 1998 | 2017 | ||||
|
2 | 0.925 | 0.160 | 7 | 107672230 | missense variant | T/A;C | snv | 0.700 | 1.000 | 4 | 2002 | 2017 | |||||
|
2 | 0.925 | 0.160 | 7 | 107683537 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2017 | ||||
|
3 | 0.925 | 0.160 | 7 | 107698076 | missense variant | A/C | snv | 0.700 | 1.000 | 4 | 2007 | 2014 | |||||
|
2 | 0.925 | 0.160 | 7 | 107674188 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2006 | 2017 | |||||
|
2 | 1.000 | 0.120 | 7 | 107674944 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 3 | 2003 | 2015 | |||||
|
2 | 0.925 | 0.160 | 7 | 107704344 | missense variant | T/C | snv | 8.9E-06 | 0.700 | 1.000 | 2 | 2004 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 107663427 | missense variant | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 2 | 2006 | 2017 | ||||
|
2 | 1.000 | 0.120 | 7 | 107663357 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2007 | 2014 | |||||
|
2 | 1.000 | 0.120 | 7 | 107702030 | missense variant | C/A;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||
|
3 | 0.925 | 0.160 | 7 | 107698083 | missense variant | T/G | snv | 0.700 | 1.000 | 2 | 2007 | 2017 |