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 | 5 | 89080244 | intron variant | A/C | snv | 0.57 | 0.700 | 1.000 | 3 | 2011 | 2014 | ||||||
|
2 | 8 | 118995181 | upstream gene variant | T/A | snv | 0.67 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
2 | 7 | 121334711 | intron variant | A/C;G | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||||
|
3 | 13 | 42377313 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
3 | 1.000 | 0.040 | 16 | 86677054 | regulatory region variant | A/G | snv | 0.17 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 13 | 42541997 | intergenic variant | C/T | snv | 0.79 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
2 | 6 | 126845927 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
3 | 7 | 121145010 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.040 | 7 | 121329715 | missense variant | G/A;T | snv | 0.44; 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
13 | 0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
2 | 7 | 96491363 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||||
|
2 | 6 | 151586613 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||||
|
3 | 1.000 | 0.080 | 1 | 22384980 | intergenic variant | G/C | snv | 0.19 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 11 | 15688538 | intron variant | T/A;G | snv | 0.22 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
1 | 7 | 121098215 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 121191969 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 42542075 | intergenic variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 7 | 121159628 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 121159738 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 121176335 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 121258506 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 37898820 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 121159030 | intron variant | G/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 42584598 | intron variant | C/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 7 | 121153274 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 |