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: rs118203998
rs118203998
PALB2
8 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 1.000 15 2007 2016
dbSNP: rs137853007
rs137853007
CHEK2
7 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 1.000 15 2001 2016
dbSNP: rs121908698
rs121908698
CHEK2
7 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 14 2003 2017
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 9 2003 2012
dbSNP: rs1567206804
rs1567206804
PALB2
1 1.000 0.080 16 23607911 frameshift variant AG/- delins 0.700 1.000 8 2006 2015
dbSNP: rs515726126
rs515726126
PALB2
2 1.000 0.080 16 23635787 frameshift variant -/A delins 1.4E-05 0.700 1.000 8 2012 2017
dbSNP: rs587776428
rs587776428
PALB2
2 1.000 0.080 16 23603512 frameshift variant AG/- delins 0.700 1.000 8 2009 2016
dbSNP: rs180177127
rs180177127
PALB2
2 1.000 0.080 16 23622982 frameshift variant -/A delins 0.700 1.000 7 2007 2016
dbSNP: rs587776426
rs587776426
PALB2
2 1.000 0.080 16 23603563 frameshift variant -/T delins 0.700 1.000 7 2009 2016
dbSNP: rs180177083
rs180177083
PALB2
3 0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 6 2011 2015
dbSNP: rs587781269
rs587781269
CHEK2
2 1.000 0.080 22 28734439 stop gained G/A;C snv 8.0E-06 2.8E-05 0.700 1.000 6 2008 2016
dbSNP: rs756853672
rs756853672
BRIP1
2 0.925 0.200 17 61683645 frameshift variant G/- delins 1.2E-05 0.700 1.000 6 2005 2016
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: rs180177136
rs180177136
PALB2
2 1.000 0.080 16 23607860 splice region variant T/C;G snv 4.0E-06 0.700 1.000 5 2007 2016
dbSNP: rs200432447
rs200432447
CHEK2
4 0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 0.700 1.000 5 2003 2016
dbSNP: rs515726104
rs515726104
PALB2
2 1.000 0.080 16 23621427 frameshift variant A/- delins 0.700 1.000 5 2012 2016
dbSNP: rs587780833
rs587780833
BRIP1
3 0.925 0.200 17 61847100 splice donor variant C/T snv 0.700 1.000 5 2005 2016
dbSNP: rs587782401
rs587782401
CHEK2
5 0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 0.700 1.000 5 2016 2018
dbSNP: rs730881422
rs730881422
BARD1
2 1.000 0.080 2 214730416 stop gained G/A snv 0.700 1.000 5 2007 2016
dbSNP: rs730881700
rs730881700
CHEK2
2 1.000 0.080 22 28695133 frameshift variant -/T delins 2.0E-05 3.5E-05 0.700 1.000 5 2004 2016
dbSNP: rs775537066
rs775537066
BRIP1
3 0.925 0.200 17 61776487 frameshift variant -/A delins 8.0E-06 2.1E-05 0.700 1.000 5 2006 2018
dbSNP: rs1131691045
rs1131691045
CHEK2
2 1.000 0.080 22 28689176 frameshift variant C/- del 0.700 1.000 4 2003 2014