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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.240 | 14 | 50628394 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 19 | 2001 | 2014 | |||
|
1 | 1.000 | 0.080 | 14 | 50628133 | missense variant | A/G;T | snv | 0.800 | 1.000 | 15 | 2001 | 2014 | |||||
|
1 | 1.000 | 0.080 | 14 | 50628157 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 14 | 2001 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 50628155 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 14 | 2001 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 50614406 | missense variant | G/A | snv | 0.800 | 1.000 | 14 | 2001 | 2014 | |||||
|
2 | 1.000 | 0.080 | 14 | 50628154 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 12 | 2004 | 2015 | ||||
|
5 | 0.827 | 0.240 | 14 | 50613343 | missense variant | C/T | snv | 0.700 | 1.000 | 15 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.080 | 14 | 50613278 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.080 | 14 | 50628420 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2002 | 2007 | |||||
|
1 | 1.000 | 0.080 | 14 | 50591584 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 14 | 50614425 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50614422 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50591587 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50593859 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50595596 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50591011 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50628428 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 50628104 | missense variant | C/A | snv | 0.700 | 0 |