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 | 1 | 199950846 | intergenic variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 7 | 75546898 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 5 | 96525308 | non coding transcript exon variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 9 | 84671077 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 74534327 | intron variant | A/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 0.851 | 0.120 | 16 | 53808996 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 6 | 35037042 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 58812863 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 2 | 651407 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 2 | 651430 | intergenic variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 1.000 | 0.080 | 18 | 60205756 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 18 | 60006567 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 2 | 25289569 | intron variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 27765954 | intergenic variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 190120954 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 2 | 650012 | intergenic variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 649867 | intergenic variant | A/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 649347 | intergenic variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 8 | 69581739 | intron variant | G/A | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 650479 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 650560 | regulatory region variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 650828 | regulatory region variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 |