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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.080 | 12 | 6021960 | missense variant | C/A;T | snv | 0.750 | 1.000 | 6 | 2006 | 2019 | |||||
|
9 | 0.807 | 0.080 | 12 | 6019472 | missense variant | C/G;T | snv | 4.0E-06 | 0.740 | 1.000 | 5 | 2010 | 2019 | ||||
|
3 | 0.882 | 0.080 | 12 | 6018629 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 1996 | 2019 | ||||
|
7 | 0.807 | 0.080 | 12 | 6034812 | missense variant | C/T | snv | 3.4E-03 | 3.7E-03 | 0.710 | 1.000 | 16 | 1991 | 2019 | |||
|
2 | 0.925 | 0.080 | 12 | 6019283 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.710 | 1.000 | 6 | 2001 | 2016 | |||
|
2 | 0.925 | 0.080 | 12 | 6022811 | missense variant | G/A | snv | 0.710 | 1.000 | 2 | 2002 | 2019 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019496 | missense variant | G/A | snv | 0.710 | 1.000 | 2 | 1996 | 2019 | |||||
|
1 | 1.000 | 0.080 | 12 | 6019475 | missense variant | G/A | snv | 0.710 | 1.000 | 2 | 2001 | 2019 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019303 | missense variant | A/C | snv | 3.2E-05 | 3.5E-05 | 0.710 | 1.000 | 2 | 2007 | 2019 | |||
|
3 | 0.882 | 0.080 | 12 | 6019298 | missense variant | G/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2005 | 2019 | ||||
|
4 | 0.925 | 0.080 | 12 | 6019297 | missense variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2017 | 2019 | |||||
|
1 | 1.000 | 0.080 | 12 | 6018901 | missense variant | G/A | snv | 0.710 | 1.000 | 2 | 2017 | 2019 | |||||
|
1 | 1.000 | 0.080 | 12 | 5976140 | stop gained | G/A | snv | 1.2E-05 | 0.710 | 1.000 | 2 | 2002 | 2019 | ||||
|
5 | 0.851 | 0.120 | 12 | 6018667 | missense variant | T/C | snv | 2.7E-03 | 2.3E-03 | 0.710 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.080 | 12 | 6018535 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 1991 | 2019 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019621 | missense variant | G/A;T | snv | 8.0E-04; 2.8E-04 | 0.700 | 1.000 | 6 | 1993 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 6044430 | missense variant | C/T | snv | 5.6E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2008 | 2016 | |||
|
1 | 1.000 | 0.080 | 12 | 5976158 | missense variant | G/A | snv | 8.0E-05 | 1.3E-04 | 0.700 | 1.000 | 3 | 2007 | 2009 | |||
|
2 | 0.925 | 0.080 | 12 | 5983175 | synonymous variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 6057953 | missense variant | G/A;C | snv | 7.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 6023630 | splice donor variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 12 | 6023651 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 12 | 6022841 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 12 | 6019555 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 12 | 6018806 | inframe deletion | ACGTGGATG/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 |