RAD51C, RAD51 paralog C, 5889
N. diseases: 162; N. variants: 96
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 |
|
0.700 | 1.000 | 11 | 2010 | 2016 | |||||||
|
0.925 | 17 | 58696702 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 8 | 2010 | 2016 | ||||||||
|
0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins |
|
0.700 | 1.000 | 7 | 2003 | 2017 | ||||||||||
|
0.925 | 17 | 58724038 | splice acceptor variant | AG/- | del | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 7 | 2010 | 2016 | ||||||||
|
0.882 | 0.200 | 17 | 58703201 | stop gained | C/T | snv | 4.0E-05 |
|
0.700 | 1.000 | 5 | 2012 | 2016 | ||||||||
|
0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 |
|
0.800 | 1.000 | 4 | 2010 | 2015 | |||||||
|
1.000 | 17 | 58734116 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2010 | 2015 | ||||||||||
|
0.925 | 17 | 58695191 | splice donor variant | T/C | snv | 4.1E-06 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2010 | 2016 | ||||||||
|
0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins |
|
0.700 | 1.000 | 4 | 2010 | 2016 | |||||||||
|
1.000 | 17 | 58724037 | splice acceptor variant | CAGGG/- | del |
|
0.700 | 1.000 | 4 | 2010 | 2016 | ||||||||||
|
1.000 | 17 | 58703330 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2010 | 2016 | ||||||||||
|
0.925 | 0.200 | 17 | 58696858 | splice donor variant | G/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
1.000 | 17 | 58703194 | splice acceptor variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
1.000 | 17 | 58709991 | splice donor variant | G/- | del |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
1.000 | 17 | 58696861 | splice donor variant | T/A | snv |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
0.925 | 17 | 58724090 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.925 | 17 | 58696692 | splice acceptor variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
0.882 | 0.200 | 17 | 58692740 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.925 | 17 | 58720817 | splice region variant | G/T | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
1.000 | 17 | 58724101 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
0.700 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
1.000 | 17 | 58720744 | splice acceptor variant | A/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | |||||||||
|
0.925 | 17 | 58709927 | frameshift variant | T/- | del |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||||
|
1.000 | 17 | 58692789 | splice donor variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | |||||||||
|
1.000 | 17 | 58692790 | splice donor variant | TAACGA/CTAAG | delins |
|
0.700 | 1.000 | 3 | 2010 | 2014 |