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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.040 | 7 | 106731773 | intron variant | C/G | snv | 0.42 | 0.800 | 1.000 | 7 | 2009 | 2019 | ||||
|
2 | 12 | 121927677 | intron variant | C/T | snv | 7.3E-02 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||||
|
3 | 1 | 171980610 | intron variant | T/C | snv | 0.78 | 0.800 | 1.000 | 4 | 2009 | 2014 | ||||||
|
3 | 15 | 63049797 | intron variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2009 | 2016 | |||||||
|
1 | 3 | 56831748 | intron variant | A/G | snv | 0.63 | 0.800 | 1.000 | 3 | 2009 | 2012 | ||||||
|
1 | 17 | 29376331 | intron variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2009 | 2012 | |||||||
|
1 | 12 | 54293448 | intron variant | A/C | snv | 0.75 | 0.800 | 1.000 | 2 | 2009 | 2014 | ||||||
|
2 | 11 | 202856 | intron variant | G/A | snv | 0.17 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
2 | 1 | 205266862 | intron variant | G/A | snv | 0.27 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 18 | 69849609 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||||
|
3 | 10 | 63373396 | intron variant | A/C | snv | 0.23 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
2 | 20 | 1943088 | upstream gene variant | T/G | snv | 0.46 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 2 | 31241963 | intron variant | A/G | snv | 0.80 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 18 | 69849610 | intron variant | A/- | del | 0.53 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 18 | 69849610 | intron variant | A/C | snv | 0.18 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 5 | 159176563 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 20 | 14407569 | intron variant | C/T | snv | 0.27 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 3 | 56815721 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||||
|
2 | 12 | 54318524 | intron variant | G/A | snv | 0.68 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
2 | 1 | 205275825 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
3 | 4 | 6889792 | intergenic variant | G/C | snv | 0.17 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
2 | 12 | 29282547 | non coding transcript exon variant | G/A | snv | 0.51 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||||
|
1 | 10 | 63290899 | intron variant | A/G | snv | 0.38 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
1 | 17 | 29387569 | intron variant | C/T | snv | 0.64 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
2 | 19 | 16074749 | non coding transcript exon variant | G/A | snv | 3.9E-02 | 0.800 | 1.000 | 2 | 2011 | 2012 |