Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 14 | 54902341 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 14 | 54844099 | missense variant | T/C;G | snv | 3.9E-04 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 22 | 1995 | 2014 | |||
|
3 | 0.925 | 0.040 | 11 | 2165727 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 20 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.040 | 11 | 2165337 | missense variant | C/G;T | snv | 2.4E-05 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
3 | 0.925 | 0.040 | 11 | 2168614 | stop gained | G/A | snv | 6.2E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2010 | 2012 | |||
|
2 | 0.925 | 0.120 | 14 | 54844108 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 0.800 | 1.000 | 23 | 1995 | 2014 | |||
|
1 | 1.000 | 0.040 | 11 | 2166760 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 22 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 2166003 | missense variant | G/A;T | snv | 5.9E-06; 5.9E-06 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2166762 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2166544 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 2166721 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 2166054 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 2166693 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 2166995 | missense variant | T/G | snv | 1.5E-05 | 0.800 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2165721 | missense variant | C/A;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2165739 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2166941 | missense variant | C/A;G;T | snv | 1.8E-05 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2167484 | missense variant | C/G;T | snv | 6.6E-05 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2166045 | missense variant | G/A | snv | 1.8E-05 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2166495 | missense variant | G/A;C | snv | 4.7E-06; 4.7E-06 | 0.700 | 1.000 | 20 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 2171857 | 5 prime UTR variant | G/A | snv | 2.1E-05 | 0.700 | 1.000 | 5 | 1997 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 2167909 | stop gained | G/A | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 2165284 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2010 | 2014 |