Source: ALL
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.
dbSNP: rs267606997
rs267606997
RAD51C
4 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
dbSNP: rs587780259
rs587780259
RAD51C
4 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
dbSNP: rs267606999
rs267606999
RAD51C
3 0.925 17 58696702 missense variant G/C snv 4.0E-06 1.4E-05 0.700 1.000 8 2010 2016
dbSNP: rs587781410
rs587781410
RAD51C ; LOC105371843
3 0.925 17 58732548 inframe deletion GTA/- delins 0.700 1.000 7 2003 2017
dbSNP: rs587781995
rs587781995
RAD51C ; LOC105371843
3 0.925 17 58724038 splice acceptor variant AG/- del 1.2E-05 7.0E-06 0.700 1.000 7 2010 2016
dbSNP: rs200293302
rs200293302
RAD51C
4 0.882 0.200 17 58703201 stop gained C/T snv 4.0E-05 0.700 1.000 5 2012 2016
dbSNP: rs587780835
rs587780835
RAD51C ; LOC105371843
1 1.000 17 58734116 splice acceptor variant A/G snv 0.700 1.000 4 2010 2015
dbSNP: rs730881931
rs730881931
RAD51C
3 0.925 17 58695191 splice donor variant T/C snv 4.1E-06 7.0E-06 0.700 1.000 4 2010 2016
dbSNP: rs730881939
rs730881939
RAD51C
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs730881941
rs730881941
RAD51C ; LOC105371843
2 1.000 17 58724037 splice acceptor variant CAGGG/- del 0.700 1.000 4 2010 2016
dbSNP: rs876658644
rs876658644
RAD51C
2 1.000 17 58703330 splice donor variant G/A snv 0.700 1.000 4 2010 2016
dbSNP: rs1327086366
rs1327086366
RAD51C
3 0.925 0.200 17 58696858 splice donor variant G/- delins 4.0E-06 0.700 1.000 3 2010 2014
dbSNP: rs145310733
rs145310733
RAD51C
2 1.000 17 58703194 splice acceptor variant A/G snv 4.0E-06 1.4E-05 0.700 1.000 3 2010 2014
dbSNP: rs1555599288
rs1555599288
RAD51C
2 1.000 17 58709991 splice donor variant G/- del 0.700 1.000 3 2010 2014
dbSNP: rs1567789009
rs1567789009
RAD51C
1 1.000 17 58696861 splice donor variant T/A snv 0.700 1.000 3 2010 2014
dbSNP: rs587781287
rs587781287
RAD51C ; LOC105371843
3 0.925 17 58724090 stop gained C/A;T snv 8.0E-06 7.0E-06 0.700 1.000 3 2012 2015
dbSNP: rs587782036
rs587782036
RAD51C
3 0.925 17 58696692 splice acceptor variant G/A;C snv 0.700 1.000 3 2010 2014
dbSNP: rs587782528
rs587782528
RAD51C ; TEX14
4 0.882 0.200 17 58692740 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 3 2015 2016
dbSNP: rs587782702
rs587782702
RAD51C
3 0.925 17 58720817 splice region variant G/T snv 1.6E-05 1.4E-05 0.700 1.000 3 2010 2014
dbSNP: rs730881933
rs730881933
RAD51C ; LOC105371843
1 1.000 17 58724101 splice donor variant G/A snv 0.700 1.000 3 2010 2014
dbSNP: rs730881942
rs730881942
RAD51C ; TEX14
4 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 3 2011 2016
dbSNP: rs748589398
rs748589398
RAD51C
2 1.000 17 58720744 splice acceptor variant A/G;T snv 4.0E-06 0.700 1.000 3 2010 2014
dbSNP: rs754367349
rs754367349
RAD51C
3 0.925 17 58709927 frameshift variant T/- del 0.700 1.000 3 2011 2015
dbSNP: rs757128712
rs757128712
RAD51C ; TEX14
2 1.000 17 58692789 splice donor variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 3 2010 2014
dbSNP: rs878855177
rs878855177
RAD51C ; TEX14
1 1.000 17 58692790 splice donor variant TAACGA/CTAAG delins 0.700 1.000 3 2010 2014