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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 4 | 144533812 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
4 | 4 | 144542079 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
4 | 4 | 144541436 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||||
|
7 | 1.000 | 0.040 | 4 | 144564763 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
5 | 1.000 | 0.040 | 4 | 144515742 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
2 | 6 | 142382532 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 5 | 148459281 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
3 | 1.000 | 0.040 | 5 | 157510035 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 10 | 12242393 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 142424746 | intron variant | -/G | ins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 10 | 12227401 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 4 | 105833074 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 4 | 105787628 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 2 | 238955452 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 3 | 169582431 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 5 | 157509356 | missense variant | T/C;G | snv | 0.38; 8.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
6 | 1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 1.000 | 0.040 | 5 | 95700996 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 4 | 105127203 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1.000 | 0.040 | 2 | 228705203 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 9 | 95442211 | downstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 4 | 105610689 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 142529475 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 228669169 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 |