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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 16 | 67940230 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 16 | 1990 | 2019 | ||||
|
1 | 1.000 | 0.080 | 16 | 67940276 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1990 | 2006 | |||||
|
1 | 1.000 | 0.080 | 16 | 67940471 | missense variant | G/T | snv | 0.800 | 1.000 | 15 | 1990 | 2006 | |||||
|
1 | 1.000 | 0.080 | 16 | 67942719 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.800 | 1.000 | 15 | 1990 | 2006 | |||
|
1 | 1.000 | 0.080 | 16 | 67940193 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 15 | 1990 | 2006 | ||||
|
1 | 1.000 | 0.080 | 16 | 67942413 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 15 | 1990 | 2006 | ||||
|
1 | 1.000 | 0.080 | 16 | 67942573 | missense variant | A/T | snv | 8.0E-06; 4.0E-06 | 7.0E-06 | 0.710 | 1.000 | 16 | 1990 | 2006 | |||
|
2 | 0.925 | 0.080 | 16 | 67942703 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.710 | 1.000 | 15 | 1990 | 2006 | |||
|
1 | 1.000 | 0.080 | 16 | 67942704 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 15 | 1990 | 2006 | |||
|
1 | 1.000 | 0.080 | 16 | 67943207 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 15 | 1990 | 2006 | ||||
|
1 | 1.000 | 0.080 | 16 | 67942939 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 15 | 1990 | 2006 | ||||
|
1 | 1.000 | 0.080 | 16 | 67940424 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 0.700 | 1.000 | 15 | 1990 | 2006 | |||
|
2 | 0.925 | 0.080 | 16 | 67942921 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 2 | 1997 | 2012 | |||
|
4 | 0.925 | 0.120 | 16 | 67940017 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 16 | 67940400 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 67942967 | stop gained | G/T | snv | 2.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 67942686 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 67942700 | protein altering variant | -/CGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 67940029 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 67943992 | missense variant | G/A | snv | 2.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 67943143 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 16 | 67940125 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1995 | 1995 |