| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 0.700 | 1.000 | 17 | 2000 | 2019 | |||
|
3 | 0.925 | 0.040 | 1 | 94018445 | intron variant | C/T | snv | 1.3E-04 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 1 | 94027444 | intron variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 94031054 | stop gained | C/A;T | snv | 1.2E-05; 2.4E-05 | 0.800 | 1.000 | 22 | 1997 | 2017 | |||||
|
3 | 0.882 | 0.080 | 1 | 94062611 | stop gained | G/A;T | snv | 0.800 | 1.000 | 21 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94043462 | stop gained | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 21 | 1997 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 94042830 | stop gained | C/A;T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||
|
3 | 0.925 | 0.040 | 1 | 94060656 | stop gained | G/A;T | snv | 8.0E-06; 4.4E-05 | 0.700 | 1.000 | 7 | 1999 | 2017 | ||||
|
1 | 1.000 | 1 | 94103131 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2017 | ||||
|
1 | 1.000 | 1 | 94031015 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2017 | ||||
|
1 | 1.000 | 1 | 94079339 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 5 | 2001 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 93997932 | stop gained | G/A;T | snv | 5.2E-05; 4.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2017 | ||||
|
1 | 1.000 | 1 | 94043441 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2002 | 2017 | ||||||
|
1 | 1.000 | 1 | 94080491 | stop gained | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2017 | |||||
|
3 | 0.882 | 0.080 | 1 | 94044692 | stop gained | C/A;G;T | snv | 5.6E-04; 4.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2001 | ||||
|
1 | 1.000 | 1 | 94113011 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2017 | |||||
|
1 | 1.000 | 1 | 94055134 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2017 | ||||
|
1 | 1.000 | 1 | 94037150 | stop gained | C/A | snv | 0.700 | 1.000 | 3 | 2000 | 2017 | ||||||
|
1 | 1.000 | 1 | 93997981 | stop gained | G/T | snv | 0.700 | 1.000 | 3 | 2000 | 2017 | ||||||
|
1 | 1.000 | 1 | 94121001 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2017 | |||||
|
1 | 1.000 | 1 | 94048919 | stop gained | C/A;T | snv | 1.0E-04 | 0.700 | 1.000 | 2 | 2001 | 2017 | |||||
|
6 | 0.827 | 0.080 | 1 | 94005500 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 1999 | 2019 | |||
|
4 | 0.851 | 0.080 | 1 | 94005470 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.710 | 1.000 | 2 | 2003 | 2019 | |||
|
1 | 1.000 | 1 | 94078653 | stop gained | C/T | snv | 7.1E-06 | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
1 | 1.000 | 1 | 94062608 | stop gained | G/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 |