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: rs370228071
rs370228071
RAD51D ; RAD51L3-RFFL
6 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.700 1.000 8 2006 2017
dbSNP: rs750621215
rs750621215
RAD51D ; RAD51L3-RFFL
3 0.925 0.200 17 35101206 stop gained G/A snv 2.8E-05 2.1E-05 0.700 1.000 7 2000 2017
dbSNP: rs387906843
rs387906843
RAD51D ; RAD51L3-RFFL
3 0.925 0.200 17 35106406 stop gained G/A snv 4.0E-05 2.8E-05 0.700 1.000 5 2011 2015
dbSNP: rs587780104
rs587780104
RAD51D ; RAD51L3-RFFL
4 0.882 0.200 17 35103298 stop gained G/A;C;T snv 1.2E-05 0.700 1.000 5 2012 2016
dbSNP: rs1060502959
rs1060502959
RAD51D ; RAD51L3-RFFL
1 1.000 17 35101203 stop gained G/A snv 0.700 1.000 4 2000 2011
dbSNP: rs1064795045
rs1064795045
RAD51D ; RAD51L3-RFFL
2 1.000 17 35101326 frameshift variant CTCCCGC/- delins 0.700 1.000 4 2000 2011
dbSNP: rs137886232
rs137886232
RAD51D ; RAD51L3-RFFL
2 1.000 17 35101347 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 8.0E-06 0.700 1.000 4 2011 2017
dbSNP: rs753862052
rs753862052
RAD51D ; RAD51L3-RFFL
2 1.000 17 35107439 frameshift variant -/AT delins 5.6E-05 7.0E-06 0.700 1.000 4 2011 2017
dbSNP: rs561425038
rs561425038
RAD51D ; RAD51L3-RFFL
3 0.925 0.200 17 35119613 start lost T/A;C;G snv 4.1E-06 0.700 1.000 3 2014 2017
dbSNP: rs730882119
rs730882119
RAD51D ; RAD51L3-RFFL
2 1.000 17 35107384 frameshift variant -/G delins 8.0E-06 1.4E-05 0.700 1.000 3 2016 2016
dbSNP: rs1057521922
rs1057521922
RAD51D ; RAD51L3-RFFL
2 1.000 17 35106990 stop gained G/A;C snv 4.0E-06 0.700 1.000 2 2015 2015
dbSNP: rs587780105
rs587780105
RAD51D ; RAD51L3-RFFL
3 0.925 0.200 17 35101356 frameshift variant G/- delins 4.0E-06 0.700 1.000 2 2015 2015
dbSNP: rs587781756
rs587781756
RAD51D ; RAD51L3-RFFL
2 1.000 17 35107017 stop gained G/A snv 4.0E-06 2.1E-05 0.700 1.000 2 2016 2017
dbSNP: rs730881935
rs730881935
RAD51D ; RAD51L3-RFFL
3 0.925 0.200 17 35107105 frameshift variant T/- del 1.6E-05 0.700 1.000 2 2011 2016
dbSNP: rs781161543
rs781161543
RAD51D ; RAD51L3-RFFL
2 0.925 0.120 17 35106385 splice donor variant C/T snv 4.0E-06 2.1E-05 0.700 1.000 2 2012 2015
dbSNP: rs1064793952
rs1064793952
RAD51D ; RAD51L3-RFFL
2 1.000 17 35119533 frameshift variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs1555567197
rs1555567197
RAD51D ; RAD51L3-RFFL
1 1.000 17 35101362 splice acceptor variant -/AC delins 0.700 1.000 1 2015 2015
dbSNP: rs1555567202
rs1555567202
RAD51D ; RAD51L3-RFFL
2 1.000 17 35101366 splice acceptor variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1567726124
rs1567726124
RAD51D ; RAD51L3-RFFL
1 1.000 17 35103253 splice donor variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1567726325
rs1567726325
RAD51D ; RAD51L3-RFFL
1 1.000 17 35103326 splice acceptor variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs587781527
rs587781527
RAD51D ; RAD51L3-RFFL
2 1.000 17 35103466 stop gained GACCTCC/AACCTCA mnv 0.700 1.000 1 2015 2015
dbSNP: rs771007945
rs771007945
RAD51D ; RAD51L3-RFFL
2 1.000 17 35103466 stop gained G/A snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs775365939
rs775365939
RAD51D ; RAD51L3-RFFL
2 1.000 17 35103472 stop gained C/A;T snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs786203137
rs786203137
RAD51D ; RAD51L3-RFFL
2 1.000 17 35119160 frameshift variant AC/- del 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs876658297
rs876658297
RAD51D ; RAD51L3-RFFL
3 0.925 0.120 17 35107108 frameshift variant TACA/- delins 7.0E-06 0.700 1.000 1 2016 2016