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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 16 | 75479764 | missense variant | A/C | snv | 0.700 | 1.000 | 17 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 75479308 | missense variant | T/C | snv | 0.800 | 1.000 | 3 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 16 | 75479254 | frameshift variant | CGGGGTCGCTGAGCAGCGG/- | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 17 | 40866783 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 40863154 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.882 | 0.160 | 16 | 89934743 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 17 | 40866768 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.080 | 17 | 40863153 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 16 | 75478838 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 16 | 75479446 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.080 | 16 | 89935140 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 16 | 75479519 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 75479220 | missense variant | G/T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 16 | 75479083 | missense variant | T/C;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 75479738 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 17 | 40866778 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 12 | 52791233 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 17 | 40866760 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 16 | 75478719 | synonymous variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 16 | 75478844 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 16 | 75478757 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 16 | 75479500 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 75479539 | missense variant | C/A;G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |