| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | X | 129601222 | regulatory region variant | T/C | snv | 7.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 35067023 | intron variant | G/C | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 6 | 140064258 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 155590307 | intergenic variant | G/T | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 6 | 160690668 | intergenic variant | C/T | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 9 | 104634643 | downstream gene variant | G/A | snv | 2.8E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 15 | 43464986 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 4 | 124644124 | intergenic variant | C/T | snv | 2.4E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 117697919 | intergenic variant | TA/-;TATA;TATATA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 2 | 19745816 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 17 | 2223210 | intron variant | G/C | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 78737381 | downstream gene variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 3 | 138401110 | intron variant | T/C | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 15 | 44116203 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 6 | 160486102 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 159225301 | intron variant | T/C | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 10 | 30027143 | missense variant | C/A;G | snv | 4.0E-06; 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 15 | 84545426 | intron variant | T/C | snv | 5.6E-05 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 6 | 66873865 | intergenic variant | G/T | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 12903203 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.040 | 9 | 37590253 | intron variant | G/A | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | X | 110695977 | intron variant | T/G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 9 | 77012344 | regulatory region variant | C/T | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 17 | 64330939 | intron variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 12 | 89687411 | intron variant | T/A;C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 |