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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.120 | 16 | 2114489 | missense variant | A/G | snv | 4.3E-06 | 0.810 | 1.000 | 21 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2100552 | missense variant | C/T | snv | 8.1E-06 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2100465 | missense variant | T/A | snv | 9.9E-04 | 1.2E-03 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2100044 | missense variant | C/T | snv | 4.6E-05 | 1.9E-04 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2111149 | missense variant | G/A | snv | 2.6E-03 | 3.2E-03 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2103755 | missense variant | C/T | snv | 8.1E-06 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2103617 | missense variant | C/T | snv | 6.1E-03 | 6.3E-03 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2102604 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 16 | 2116010 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2117568 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2118021 | missense variant | C/A;T | snv | 2.5E-03; 1.1E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2104572 | missense variant | A/C;G;T | snv | 1.1E-03; 1.6E-04 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2099931 | missense variant | C/T | snv | 1.8E-05 | 2.8E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2112360 | missense variant | A/G | snv | 7.2E-02 | 0.21 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2097912 | missense variant | C/T | snv | 8.1E-05 | 5.6E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2102629 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2103652 | missense variant | G/A | snv | 6.5E-05 | 4.9E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2111671 | missense variant | C/T | snv | 6.5E-05 | 2.8E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2103485 | missense variant | C/T | snv | 5.5E-05 | 2.1E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2097890 | missense variant | G/A;C;T | snv | 2.8E-05; 9.7E-05; 4.1E-06 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2109736 | missense variant | C/T | snv | 3.3E-05 | 5.6E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2097971 | missense variant | G/A | snv | 4.4E-06 | 1.4E-05 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
3 | 0.882 | 0.120 | 16 | 2099955 | missense variant | G/A | snv | 1.7E-04 | 3.2E-04 | 0.700 | 1.000 | 3 | 2009 | 2016 | |||
|
1 | 1.000 | 0.120 | 16 | 2111442 | missense variant | G/A | snv | 2.1E-05 | 0.700 | 0 |