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: rs397507833
rs397507833
BRCA2
2 1.000 13 32340556 frameshift variant -/A delins 0.700 1.000 2 1999 2016
dbSNP: rs397507899
rs397507899
BRCA2
2 1.000 13 32355024 frameshift variant -/A delins 0.700 1.000 2 2009 2013
dbSNP: rs398122789
rs398122789
BRCA2
3 0.925 0.200 13 32339318 stop gained -/A delins 0.700 1.000 2 2011 2015
dbSNP: rs398123323
rs398123323
PTEN
2 1.000 0.200 10 87933163 frameshift variant -/A delins 0.700 1.000 2 2011 2011
dbSNP: rs587780236
rs587780236
BRIP1
4 0.882 0.280 17 61743118 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 2 2016 2016
dbSNP: rs587781290
rs587781290
CDH1
2 1.000 0.080 16 68808552 frameshift variant -/A delins 0.700 1.000 2 2007 2015
dbSNP: rs587781625
rs587781625
IL5 ; RAD50
1 5 132557417 frameshift variant -/A delins 0.700 1.000 2 2006 2009
dbSNP: rs63750463
rs63750463
MSH2
2 1.000 0.160 2 47478422 frameshift variant -/A delins 0.700 1.000 2 2007 2007
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 2 2006 2011
dbSNP: rs777367075
rs777367075
BRIP1
1 17 61683520 frameshift variant -/A delins 8.0E-06 7.0E-06 0.700 1.000 2 2010 2012
dbSNP: rs80359438
rs80359438
BRCA2
3 0.925 0.200 13 32338630 frameshift variant -/A delins 0.700 1.000 2 2004 2017
dbSNP: rs876658724
rs876658724
APC
2 1.000 0.120 5 112838660 frameshift variant -/A delins 0.700 1.000 2 2008 2013
dbSNP: rs876658940
rs876658940
MSH2
1 2 47475046 frameshift variant -/A delins 0.700 1.000 2 2011 2017
dbSNP: rs876659005
rs876659005
RAD50
2 1.000 0.200 5 132579868 frameshift variant -/A delins 0.700 1.000 2 2006 2009
dbSNP: rs1057516541
rs1057516541
ATM
2 1.000 0.200 11 108284359 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs1114167661
rs1114167661
PTEN
1 10 87957974 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs1114167815
rs1114167815
MSH2
2 1.000 0.160 2 47475100 frameshift variant -/A delins 0.700 1.000 1 2008 2008
dbSNP: rs1231406078
rs1231406078
PMS2
1 7 5977650 frameshift variant -/A delins 7.1E-06 0.700 1.000 1 2010 2010
dbSNP: rs1553341945
rs1553341945
FH
1 1 241517211 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs1553619976
rs1553619976
VHL
3 0.925 0.160 3 10146593 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1554898084
rs1554898084
PTEN
2 1.000 0.080 10 87933059 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs1555461413
rs1555461413
PALB2
1 16 23635359 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs397507826
rs397507826
BRCA2
3 0.925 0.200 13 32340432 frameshift variant -/A delins 0.700 1.000 1 2008 2008
dbSNP: rs587779111
rs587779111
MSH2
2 1.000 0.160 2 47475050 frameshift variant -/A delins 0.700 1.000 1 1998 1998
dbSNP: rs587781487
rs587781487
BRCA1
3 0.925 0.200 17 43099809 frameshift variant -/A delins 0.700 1.000 1 2016 2016