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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2008 | 2014 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.882 | 0.080 | 2 | 8733598 | missense variant | G/A;C | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 5 | 55890064 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.080 | 8 | 140516886 | 3 prime UTR variant | G/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 1 | 160610225 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 8964670 | missense variant | T/A | snv | 0.51 | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 19 | 53576890 | synonymous variant | A/G | snv | 0.70 | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.360 | 12 | 47845892 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 17 | 7673250 | missense variant | C/T | snv | 2.7E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 4 | 147368237 | intergenic variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2020 | 2020 |