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: 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: rs587781299
rs587781299
ATM ; C11orf65
3 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 1.000 8 1998 2016
dbSNP: rs80359328
rs80359328
BRCA2
4 0.882 0.240 13 32336684 frameshift variant -/A delins 0.700 1.000 7 2002 2014
dbSNP: rs80359335
rs80359335
BRCA2
3 0.925 0.200 13 32336936 frameshift variant -/A delins 7.0E-06 0.700 1.000 7 1998 2014
dbSNP: rs80359773
rs80359773
BRCA2
4 0.882 0.280 13 32398184 frameshift variant -/A delins 0.700 1.000 7 1999 2016
dbSNP: rs587779822
rs587779822
ATM
2 1.000 0.200 11 108267204 frameshift variant -/A delins 0.700 1.000 5 1998 2012
dbSNP: rs587780240
rs587780240
BRIP1
2 1.000 0.120 17 61715948 splice donor variant -/A delins 1.6E-05 2.8E-05 0.700 1.000 5 2004 2016
dbSNP: rs397507683
rs397507683
BRCA2
3 0.925 0.200 13 32338103 frameshift variant -/A delins 0.700 1.000 4 2002 2016
dbSNP: rs730881939
rs730881939
RAD51C
5 0.851 0.200 17 58695008 stop gained -/A delins 0.700 1.000 4 2010 2016
dbSNP: rs773570504
rs773570504
ATM ; C11orf65
2 1.000 0.200 11 108326152 frameshift variant -/A delins 1.6E-05 7.0E-06 0.700 1.000 4 2002 2012
dbSNP: rs80359527
rs80359527
BRCA2
3 0.925 0.200 13 32340035 stop gained -/A delins 0.700 1.000 4 2006 2019
dbSNP: rs863225332
rs863225332
APC
2 1.000 0.120 5 112838397 stop gained -/A delins 0.700 1.000 4 1999 2017
dbSNP: rs876658502
rs876658502
ATM
2 1.000 0.200 11 108272537 frameshift variant -/A delins 0.700 1.000 4 1998 2005
dbSNP: rs1060503764
rs1060503764
SDHB
4 0.925 0.080 1 17022655 frameshift variant -/A delins 0.700 1.000 3 2005 2009
dbSNP: rs1555567610
rs1555567610
RAD51D ; RAD51L3-RFFL
1 17 35103497 frameshift variant -/A delins 0.700 1.000 3 2012 2015
dbSNP: rs180177127
rs180177127
PALB2
2 1.000 0.080 16 23622982 frameshift variant -/A delins 0.700 1.000 3 2007 2015
dbSNP: rs267608118
rs267608118
MSH6 ; FBXO11
3 1.000 0.160 2 47806453 frameshift variant -/A delins 0.700 1.000 3 2010 2016
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
2 1.000 0.200 11 108365415 frameshift variant -/A delins 0.700 1.000 3 2000 2011
dbSNP: rs587782111
rs587782111
MSH6 ; FBXO11
3 1.000 0.160 2 47804946 stop gained -/A delins 0.700 1.000 3 2011 2017
dbSNP: rs587782341
rs587782341
PTEN
2 1.000 0.080 10 87957958 frameshift variant -/A delins 0.700 1.000 3 2004 2012
dbSNP: rs772306012
rs772306012
RAD51D ; RAD51L3-RFFL
1 17 35119611 frameshift variant -/A delins 4.1E-06 0.700 1.000 3 2011 2016
dbSNP: rs80357687
rs80357687
BRCA1
3 0.925 0.200 17 43091771 frameshift variant -/A delins 0.700 1.000 3 1998 2013
dbSNP: rs80357762
rs80357762
BRCA1
2 1.000 17 43099827 frameshift variant -/A delins 8.0E-06 0.700 1.000 3 2002 2018
dbSNP: rs1555459954
rs1555459954
PALB2
2 1.000 0.080 16 23626297 frameshift variant -/A delins 0.700 1.000 2 2011 2014
dbSNP: rs267608156
rs267608156
PMS2
3 1.000 0.160 7 5989867 frameshift variant -/A delins 0.700 1.000 2 2008 2016