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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2014 | |||||
|
2 | 3 | 41224630 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
19 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 0.070 | 1.000 | 7 | 1998 | 2019 | |||||
|
12 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.050 | 1.000 | 5 | 1999 | 2019 | |||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.050 | 1.000 | 5 | 2002 | 2019 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
11 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.851 | 0.080 | 3 | 41225746 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.200 | 3 | 41198686 | 5 prime UTR variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 |