Source: CLINVAR ×
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: rs1567206804
rs1567206804
PALB2
1 1.000 0.080 16 23607911 frameshift variant AG/- delins 0.700 1.000 8 2006 2015
dbSNP: rs773829275
rs773829275
PALB2
1 1.000 0.080 16 23603526 stop gained G/A;T snv 4.0E-06 7.0E-06 0.700 1.000 6 2007 2015
dbSNP: rs1555457841
rs1555457841
PALB2
1 1.000 0.080 16 23603497 stop gained G/A snv 0.700 1.000 5 2007 2016
dbSNP: rs1567204928
rs1567204928
PALB2
1 1.000 0.080 16 23603476 frameshift variant -/AA delins 0.700 1.000 5 2007 2015
dbSNP: rs1567204932
rs1567204932
PALB2
1 1.000 0.080 16 23603477 frameshift variant AATA/- delins 0.700 1.000 5 2007 2015
dbSNP: rs796065354
rs796065354
ESR1
1 0.882 0.080 6 151944320 missense variant A/G snv 0.760 1.000 5 2000 2013
dbSNP: rs1553612222
rs1553612222
BARD1
1 1.000 0.080 2 214728968 frameshift variant CCCAC/- delins 0.700 1.000 4 2007 2016
dbSNP: rs1555911635
rs1555911635
CHEK2
1 1.000 0.080 22 28687982 frameshift variant G/- del 0.700 1.000 4 2003 2014
dbSNP: rs1555911640
rs1555911640
CHEK2
1 1.000 0.080 22 28687985 frameshift variant G/- delins 0.700 1.000 4 2003 2014
dbSNP: rs1555911636
rs1555911636
CHEK2
1 1.000 0.080 22 28687982 frameshift variant -/A delins 0.700 1.000 3 2003 2014
dbSNP: rs515726111
rs515726111
PALB2
1 1.000 0.080 16 23608013 splice acceptor variant C/G;T snv 0.700 1.000 3 2007 2014
dbSNP: rs1553616339
rs1553616339
BARD1
1 1.000 0.080 2 214752424 splice donor variant CCAAAGCTAAATCCATACTTACTAC/- delins 0.700 1.000 2 2010 2012
dbSNP: rs1553628351
rs1553628351
BARD1 ; SNHG31
1 1.000 0.080 2 214809411 splice donor variant C/A snv 0.700 1.000 2 2010 2012
dbSNP: rs1555460533
rs1555460533
PALB2
1 1.000 0.080 16 23630170 stop gained T/A snv 0.700 1.000 2 2015 2017
dbSNP: rs1555911638
rs1555911638
CHEK2
1 1.000 0.080 22 28687983 splice acceptor variant CTGAAAATAAAGG/- delins 0.700 1.000 2 2011 2014
dbSNP: rs1555913631
rs1555913631
CHEK2
1 1.000 0.080 22 28695708 splice donor variant A/G snv 0.700 1.000 2 2011 2014
dbSNP: rs1555914382
rs1555914382
CHEK2
1 1.000 0.080 22 28696988 splice acceptor variant C/T snv 0.700 1.000 2 2011 2014
dbSNP: rs1555924538
rs1555924538
CHEK2
1 1.000 0.080 22 28719478 frameshift variant G/- del 0.700 1.000 2 2011 2014
dbSNP: rs1559426428
rs1559426428
BARD1
1 1.000 0.080 2 214781510 splice acceptor variant C/A snv 0.700 1.000 2 2010 2012
dbSNP: rs1569115687
rs1569115687
CHEK2
1 1.000 0.080 22 28696899 splice donor variant A/C snv 0.700 1.000 2 2011 2014
dbSNP: rs1569127917
rs1569127917
CHEK2
1 1.000 0.080 22 28703497 splice donor variant CTACTTAC/AA delins 0.700 1.000 2 2011 2014
dbSNP: rs755263466
rs755263466
PALB2
1 1.000 0.080 16 23630142 stop gained A/C snv 8.0E-06 0.700 1.000 2 2016 2018
dbSNP: rs774831804
rs774831804
CHEK2
1 1.000 0.080 22 28711908 splice donor variant CT/- del 0.700 1.000 2 2011 2014
dbSNP: rs779844113
rs779844113
CHEK2
1 1.000 0.080 22 28694030 splice donor variant A/C;G snv 4.3E-06 0.700 1.000 2 2011 2014
dbSNP: rs781021132
rs781021132
CHEK2
1 1.000 0.080 22 28719393 splice donor variant A/G snv 0.700 1.000 2 2011 2014