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 | 16 | 11281429 | intron variant | G/T | snv | 0.21 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 14 | 72683993 | intron variant | C/T | snv | 0.49 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 16 | 11276073 | intron variant | C/G;T | snv | 0.37 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||||
|
7 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
1 | 12 | 20368720 | intron variant | C/A | snv | 0.43 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 0.925 | 0.040 | 13 | 42906069 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 22 | 50776482 | intron variant | G/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 16 | 11275998 | intron variant | G/C;T | snv | 4.1E-06; 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 21 | 44259375 | intron variant | T/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 17305990 | intron variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 20 | 32774055 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 55509814 | intron variant | A/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.040 | 4 | 54660528 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 19 | 10156335 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 15 | 50424871 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | Y | 12678428 | intron variant | T/G | snv | 4.6E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 9 | 25233486 | intergenic variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 2 | 139390262 | intergenic variant | C/T | snv | 9.0E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 20 | 51943113 | intergenic variant | T/C | snv | 0.63 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 4459274 | intergenic variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 0.925 | 0.040 | 6 | 29521271 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 |