| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
11 | 108259050 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||||
|
11 | 108307917 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | 16 | 2077476 | non coding transcript exon variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 16 | 2061946 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 |
|
0.020 | < 0.001 | 2 | 2005 | 2008 | ||||||||
|
0.925 | 0.080 | 7 | 99478208 | intron variant | T/C | snv | 0.13 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.160 | 17 | 78224125 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
21 | 26480275 | missense variant | G/A;T | snv | 4.1E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||||
|
1.000 | 0.080 | 4 | 54274869 | missense variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.160 | 7 | 140781612 | missense variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
10 | 73914036 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.160 | 2 | 25231099 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
2 | 29193487 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||||
|
12 | 25225676 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||||
|
X | 131278706 | missense variant | T/C;G | snv | 3.8E-05; 9.5E-03 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||||
|
0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 |