| 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 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
22 | 37071230 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 32470947 | upstream gene variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 26135269 | intron variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 26116196 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 65652210 | non coding transcript exon variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 37028807 | non coding transcript exon variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 6 | 26069441 | intergenic variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 25640972 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 41917581 | 5 prime UTR variant | A/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.120 | 6 | 135106006 | upstream gene variant | C/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 6 | 26022978 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 25663957 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 134878643 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 134878458 | intergenic variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 134889044 | intergenic variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.800 | 1.000 | 2 | 2010 | 2018 |