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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 16 | 88643420 | missense variant | A/C;G | snv | 8.0E-06; 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.320 | 16 | 88643329 | 3 prime UTR variant | C/T | snv | 0.49 | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | X | 37805098 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37805020 | missense variant | G/A;C | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37796092 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37783565 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 1991 | 2015 | |||||
|
1 | 1.000 | 0.120 | X | 37799011 | missense variant | G/A;C | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37793793 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37792024 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37798956 | stop gained | C/T | snv | 5.8E-06 | 9.5E-06 | 0.700 | 1.000 | 7 | 1992 | 2018 | |||
|
1 | 1.000 | 0.120 | X | 37809604 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37792023 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
2 | 1.000 | 0.120 | X | 37803886 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
2 | 1.000 | 0.120 | X | 37803890 | missense variant | C/G | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37782163 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37810813 | missense variant | T/C | snv | 0.800 | 1.000 | 25 | 1989 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 37782100 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
2 | 1.000 | 0.120 | X | 37783510 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37783523 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37793683 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37796094 | missense variant | T/A | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37796131 | missense variant | C/A;T | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37796132 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37796134 | stop gained | G/T | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37799010 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1989 | 2016 |