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 | 1 | 10226118 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 14 | 103106478 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 14 | 105263455 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 106696804 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 0.882 | 0.040 | 7 | 106731773 | intron variant | C/G | snv | 0.42 | 0.800 | 1.000 | 5 | 2009 | 2019 | ||||
|
1 | 7 | 106732176 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 106732314 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 106732457 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 106733200 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.790 | 0.160 | 12 | 111449855 | 3 prime UTR variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 12 | 111752634 | intron variant | C/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 13 | 113358583 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 12 | 121927677 | intron variant | C/T | snv | 7.3E-02 | 0.800 | 1.000 | 5 | 2009 | 2019 | ||||||
|
1 | 3 | 124621375 | intron variant | G/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 4 | 126578990 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 6 | 135106679 | upstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 20 | 14407569 | intron variant | C/T | snv | 0.27 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 1.000 | 0.040 | 5 | 159176563 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 5 | 159177955 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 19 | 16074749 | non coding transcript exon variant | G/A | snv | 3.9E-02 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 3 | 171832858 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 |