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: rs80357132
rs80357132
BRCA1
1 1.000 0.200 17 43063888 missense variant A/G snv 4.0E-06; 4.0E-06 0.700 1.000 13 1995 2019
dbSNP: rs1555289992
rs1555289992
BRCA2
1 1.000 0.200 13 32398399 frameshift variant A/- delins 0.700 1.000 6 2006 2014
dbSNP: rs1555576959
rs1555576959
BRCA1
1 1.000 0.200 17 43057117 frameshift variant CT/- delins 0.700 1.000 6 1996 2016
dbSNP: rs1555280328
rs1555280328
BRCA2
1 1.000 0.200 13 32319074 splice region variant ATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAG/- delins 0.700 1.000 5 1998 2014
dbSNP: rs886039675
rs886039675
BRCA1
1 1.000 0.200 17 43045701 frameshift variant G/- delins 0.700 1.000 5 2001 2015
dbSNP: rs1060502443
rs1060502443
BRCA2
1 1.000 0.200 13 32394716 missense variant A/G snv 0.700 1.000 3 2008 2012
dbSNP: rs1566249353
rs1566249353
BRCA2
1 1.000 0.200 13 32371055 frameshift variant -/A delins 0.700 1.000 3 2001 2018
dbSNP: rs1567779838
rs1567779838
BRCA1
1 1.000 0.200 17 43076583 stop gained -/TTCACTA delins 0.700 1.000 3 2003 2013
dbSNP: rs758732038
rs758732038
BRCA2
1 1.000 0.200 13 32316420 splice acceptor variant GA/- delins 0.700 1.000 3 2010 2018
dbSNP: rs761283611
rs761283611
BRCA2
1 1.000 0.200 13 32316457 start lost A/- delins 8.0E-06 7.0E-06 0.700 1.000 3 2003 2014
dbSNP: rs1466688245
rs1466688245
BRCA2
1 1.000 0.200 13 32340496 stop gained T/C;G snv 0.700 1.000 2 2016 2018
dbSNP: rs1555289997
rs1555289997
BRCA2
1 1.000 0.200 13 32398408 stop gained C/T snv 0.700 1.000 2 2008 2008
dbSNP: rs1555592576
rs1555592576
BRCA1
1 1.000 0.200 17 43094469 frameshift variant CATTC/- delins 0.700 1.000 2 1997 2015
dbSNP: rs1555593195
rs1555593195
BRCA1
1 1.000 0.200 17 43094777 frameshift variant G/- del 0.700 1.000 2 2015 2017
dbSNP: rs1566253399
rs1566253399
BRCA2
1 1.000 0.200 13 32379914 splice donor variant GT/TC mnv 0.700 1.000 2 2010 2012
dbSNP: rs879254224
rs879254224
BRCA1
1 1.000 0.200 17 43099893 intron variant AAAGAACAGT/- delins 0.700 1.000 2 1999 2007
dbSNP: rs1057519364
rs1057519364
ATM
1 1.000 0.200 11 108253839 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1135401921
rs1135401921
BRCA2
1 1.000 0.200 13 32363176 splice acceptor variant TA/AG mnv 0.700 1.000 1 2010 2010
dbSNP: rs1555280966
rs1555280966
BRCA2
1 1.000 0.200 13 32326152 splice donor variant T/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1555281357
rs1555281357
BRCA2
1 1.000 0.200 13 32329482 splice donor variant TACTACTGCTGTAAGTAAATATGACATTGATTA/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1555283001
rs1555283001
BRCA2
1 1.000 0.200 13 32337357 stop gained C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1555284103
rs1555284103
BRCA2
1 1.000 0.200 13 32339554 frameshift variant -/G delins 0.700 1.000 1 2011 2011
dbSNP: rs1555288435
rs1555288435
BRCA2
1 1.000 0.200 13 32379749 splice acceptor variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1555596373
rs1555596373
BRCA1
1 1.000 0.200 17 43104184 frameshift variant T/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1566222053
rs1566222053
BRCA2
1 1.000 0.200 13 32332270 splice acceptor variant A/G snv 0.700 1.000 1 2010 2010