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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 19 | 855574 | stop gained | C/A;T | snv | 0.810 | 1.000 | 7 | 1999 | 2016 | |||||
|
2 | 0.925 | 0.040 | 19 | 852990 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 8 | 1999 | 2016 | |||||
|
2 | 0.925 | 0.040 | 19 | 856019 | missense variant | G/A;C | snv | 0.800 | 1.000 | 5 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.040 | 19 | 855978 | missense variant | G/T | snv | 0.800 | 1.000 | 5 | 1999 | 2013 | |||||
|
2 | 0.925 | 0.040 | 19 | 855613 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.040 | 19 | 855625 | missense variant | G/A;T | snv | 1.7E-04 | 0.700 | 1.000 | 5 | 1999 | 2013 | ||||
|
3 | 0.882 | 0.080 | 19 | 855649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2001 | 2015 | |||||
|
2 | 0.925 | 0.040 | 19 | 852945 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 1999 | 2013 | |||||
|
3 | 0.925 | 0.040 | 19 | 855799 | splice region variant | G/A | snv | 0.700 | 1.000 | 3 | 1999 | 2013 | |||||
|
2 | 0.925 | 0.040 | 19 | 855795 | splice donor variant | G/A;C | snv | 0.700 | 1.000 | 2 | 1999 | 2013 | |||||
|
2 | 0.925 | 0.040 | 19 | 853395 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 855955 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 852380 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 |