| 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 | 7 | 100106335 | intron variant | T/C;G | snv | 0.29; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 100188127 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 100242838 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 100245730 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 100341332 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 100346058 | non coding transcript exon variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 7 | 100374211 | missense variant | A/C;G | snv | 4.0E-06; 0.65 |
|
0.720 | 1.000 | 4 | 2018 | 2019 | ||||||||
|
0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 |
|
0.830 | 1.000 | 5 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 1004711 | missense variant | C/T | snv | 0.44 | 0.46 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.925 | 0.120 | 19 | 1005231 | missense variant | C/T | snv | 0.36 | 0.41 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 13 | 100558935 | intron variant | C/T | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 7 | 100561944 | intron variant | A/G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 4 | 10057994 | upstream gene variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | X | 100589509 | intron variant | G/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 4 | 10060702 | regulatory region variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 3 | 10065441 | frameshift variant | TT/- | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 2 | 100697607 | intergenic variant | T/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 100698011 | intergenic variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 12 | 100827461 | intron variant | A/G | snv | 3.7E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 7 | 100891280 | missense variant | C/T | snv | 1.7E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 100925227 | intron variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 8 | 100949682 | intron variant | T/C | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |