Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 5 | 55865274 | intron variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 14 | 22461166 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 22477241 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 22395232 | intron variant | G/A | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 22254840 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38286177 | intergenic variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 22460708 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 161743067 | intergenic variant | C/T | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 14 | 22403377 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 38295217 | upstream gene variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 2 | 214809500 | missense variant | G/A | snv | 0.38 | 0.33 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 14 | 22448054 | intron variant | A/G | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 22464064 | intron variant | C/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 22471852 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 7 | 38326911 | non coding transcript exon variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 4 | 41747479 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.080 | 4 | 41746162 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.050 | 1.000 | 5 | 2003 | 2018 | |||||||||
|
0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv |
|
0.060 | 1.000 | 6 | 2003 | 2018 | |||||||||
|
0.851 | 0.120 | 5 | 176626472 | missense variant | C/G;T | snv | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |