Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 9 | 133268030 | intron variant | G/A | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
9 | 9 | 133274306 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169511938 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
8 | 9 | 133266942 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
7 | 9 | 133266804 | intron variant | G/T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
10 | 1.000 | 0.080 | 9 | 133278860 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
22 | 0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
8 | 9 | 133271249 | intron variant | A/T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
1 | 1 | 169382306 | intron variant | A/C;G | snv | 5.9E-03; 6.2E-05 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
9 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 5 | 175547573 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 171724227 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 9278630 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 186297569 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 46739325 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 169355555 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 17 | 7304568 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 206828392 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
7 | 0.807 | 0.160 | 1 | 169541191 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 2 | 127428921 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 47422103 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 0.925 | 0.120 | 4 | 154586432 | frameshift variant | TTCCAGT/- | del | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |