| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
X | 116173092 | missense variant | C/T | snv | 1.4E-04 | 2.5E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
X | 116174483 | 3 prime UTR variant | A/T | snv | 5.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116649022 | intron variant | C/T | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116652137 | intron variant | G/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
11 | 116655013 | intron variant | T/C | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 11 | 116655150 | non coding transcript exon variant | C/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 116655605 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 116714271 | intergenic variant | C/A;T | snv | 0.62 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
11 | 116714817 | regulatory region variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 116717990 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||||
|
1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
11 | 116736721 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||||||
|
11 | 116739533 | regulatory region variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
11 | 116748357 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||||
|
11 | 116751247 | intron variant | T/G | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
11 | 116752943 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
11 | 116755542 | intron variant | G/A | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 116757685 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116759233 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116760974 | intron variant | G/A | snv | 0.36 | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 11 | 116763146 | missense variant | G/A | snv | 7.8E-02 | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
11 | 116769521 | intron variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 11 | 116776891 | 3 prime UTR variant | C/T | snv | 0.92 |
|
0.800 | 1.000 | 1 | 2013 | 2019 |