| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 127419801 | splice region variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 7 | 73442100 | 3 prime UTR variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | |||||||
|
0.925 | 0.120 | 7 | 73490480 | intron variant | C/T | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 127418464 | 5 prime UTR variant | A/T | snv | 0.38 | 0.44 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | |||||||
|
2 | 127302492 | 3 prime UTR variant | C/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||||
|
2 | 127193421 | intron variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2010 | 2014 | ||||||||||
|
20 | 35165459 | regulatory region variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||||
|
20 | 35157873 | intergenic variant | C/T | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||||
|
20 | 35142584 | intron variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127401685 | downstream gene variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2010 | 2014 | ||||||||||
|
2 | 127279984 | intron variant | A/G;T | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 34737712 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
2 | 127547621 | intron variant | T/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.925 | 0.120 | 2 | 27563321 | intron variant | A/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
20 | 35131884 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35132230 | intron variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 33861523 | regulatory region variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.080 | 20 | 34437762 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
20 | 35017295 | intron variant | C/T | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127332568 | intron variant | G/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35002614 | 3 prime UTR variant | G/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127570800 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35043604 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
2 | 127584028 | intron variant | T/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |