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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 112971371 | 3 prime UTR variant | G/A | snv | 3.7E-03 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||||
|
12 | 112971371 | 3 prime UTR variant | G/A | snv | 3.7E-03 |
|
0.700 | 1.000 | 2 | 2019 | 2020 | ||||||||||
|
1.000 | 0.040 | 12 | 112971192 | 3 prime UTR variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 12 | 112970403 | 3 prime UTR variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 12 | 112961374 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 112966190 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 112965879 | missense variant | C/G;T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 112965692 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 12 | 112959886 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 12 | 112943571 | intron variant | G/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 12 | 112943571 | intron variant | G/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 112971069 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 112969387 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 12 | 112947441 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 |
|
0.020 | < 0.001 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.040 | 12 | 112938583 | missense variant | G/A;C;T | snv | 0.68 | 0.64 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
12 | 112971371 | 3 prime UTR variant | G/A | snv | 3.7E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.925 | 0.120 | 12 | 112961374 | intron variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |