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: rs80359035
rs80359035
BRCA2
4 0.882 0.200 13 32363211 stop gained C/A;G;T snv 0.700 1.000 18 2004 2017
dbSNP: rs80359152
rs80359152
BRCA2
5 0.851 0.200 13 32379800 missense variant G/A snv 0.700 1.000 14 2008 2015
dbSNP: rs80359479
rs80359479
BRCA2
3 0.925 0.200 13 32339422 frameshift variant AAAA/-;AAA;AAAAA;AAAAAAAAAA delins 0.700 1.000 14 2001 2014
dbSNP: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 13 2002 2019
dbSNP: rs397507954
rs397507954
BRCA2
3 0.925 0.200 13 32363225 missense variant A/G snv 4.0E-06 0.700 1.000 13 2008 2019
dbSNP: rs41293513
rs41293513
BRCA2
4 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 13 2007 2017
dbSNP: rs80358871
rs80358871
BRCA2
3 0.925 0.200 13 32326613 missense variant G/A;C snv 0.700 1.000 10 2003 2016
dbSNP: rs80359071
rs80359071
BRCA2
6 0.882 0.200 13 32363445 missense variant G/A snv 8.0E-06 0.700 1.000 10 2004 2016
dbSNP: rs80359316
rs80359316
BRCA2
3 0.925 0.200 13 32336284 frameshift variant G/- del 0.700 1.000 10 1997 2013
dbSNP: rs80359380
rs80359380
BRCA2
5 0.851 0.200 13 32337618 frameshift variant -/T;TT delins 0.700 1.000 10 2002 2014
dbSNP: rs80359454
rs80359454
BRCA2
4 0.882 0.200 13 32338828 frameshift variant AAAG/- delins 0.700 1.000 10 1996 2014
dbSNP: rs80359714
rs80359714
BRCA2
3 0.925 0.200 13 32371001 frameshift variant AGAG/-;AG delins 1.2E-05 0.700 1.000 10 1996 2014
dbSNP: rs81002823
rs81002823
BRCA2
3 0.925 0.200 13 32354859 splice acceptor variant A/G;T snv 0.700 1.000 10 2009 2019
dbSNP: rs80358711
rs80358711
BRCA2
3 0.925 0.200 13 32339244 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 9 2000 2014
dbSNP: rs80359013
rs80359013
BRCA2
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 9 2002 2016
dbSNP: rs80359405
rs80359405
BRCA2
5 0.851 0.200 13 32338201 frameshift variant GT/- delins 0.700 1.000 9 1996 2015
dbSNP: rs80359604
rs80359604
BRCA2
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 1.000 9 1998 2014
dbSNP: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 8 1997 2015
dbSNP: rs80358650
rs80358650
BRCA2
3 0.925 0.200 13 32316463 start lost G/A;T snv 0.700 1.000 7 2008 2019
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.700 1.000 7 2007 2015
dbSNP: rs80359200
rs80359200
BRCA2
12 0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 0.700 1.000 7 1998 2016
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 7 1996 2012
dbSNP: rs80359328
rs80359328
BRCA2
4 0.882 0.240 13 32336684 frameshift variant -/A delins 0.700 1.000 7 2003 2016
dbSNP: rs80359439
rs80359439
BRCA2
4 0.882 0.200 13 32338634 frameshift variant T/-;TT delins 0.700 1.000 7 2001 2014
dbSNP: rs80359671
rs80359671
BRCA2
4 0.882 0.200 13 32331004 frameshift variant TCAAA/- delins 8.0E-06 0.700 1.000 7 1996 2013