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: rs28363284
rs28363284
RAD51D ; RAD51L3-RFFL
5 0.882 0.080 17 35103294 missense variant T/C snv 9.7E-03 1.1E-02 0.020 0.500 2 2004 2009
dbSNP: rs34434221
rs34434221
AKAP13
3 0.882 0.080 15 85579644 missense variant A/C snv 2.2E-02 2.2E-02 0.020 1.000 2 2006 2007
dbSNP: rs886039958
rs886039958
BRCA1
3 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 0.020 1.000 2 2006 2007
dbSNP: rs1060915
rs1060915
BRCA1
1 1.000 0.080 17 43082453 synonymous variant A/G snv 0.35 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1064795860
rs1064795860
TP53
1 1.000 0.080 17 7675155 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs11075884
rs11075884 		1 1.000 0.080 16 71321332 intergenic variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1131691036
rs1131691036
TP53
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 1.000 1 2014 2014
dbSNP: rs113211432
rs113211432
BARD1
3 0.882 0.080 2 214767532 frameshift variant -/TG delins 0.010 1.000 1 2006 2006
dbSNP: rs1186364060
rs1186364060
HFM1
1 1.000 0.080 1 91353084 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121917739
rs121917739
RAD51
4 0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs1302297709
rs1302297709
RAD51C
3 0.882 0.080 17 58703319 missense variant A/G snv 0.010 < 0.001 1 2004 2004
dbSNP: rs140510218
rs140510218
CTCF
1 1.000 0.080 16 67621458 synonymous variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs143282828
rs143282828
UIMC1
1 1.000 0.080 5 176968697 missense variant A/G snv 7.3E-04 7.3E-04 0.010 1.000 1 2009 2009
dbSNP: rs152451
rs152451
PALB2
1 1.000 0.080 16 23634870 missense variant T/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs16940
rs16940
BRCA1
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2014 2014
dbSNP: rs17663555
rs17663555
LOC105379030
3 1.000 0.080 5 73136209 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1801201
rs1801201
ERBB2
1 1.000 0.080 17 39723332 missense variant A/C;G snv 4.0E-06; 4.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs2070094
rs2070094
BARD1
3 0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37 0.010 1.000 1 2006 2006
dbSNP: rs2241268
rs2241268
AKAP13
1 1.000 0.080 15 85735078 missense variant G/A snv 0.22 0.19 0.010 1.000 1 2006 2006
dbSNP: rs3112612
rs3112612
CASC16
3 0.882 0.080 16 52601252 intron variant G/A snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs386654966
rs386654966
BARD1
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 0.010 1.000 1 2006 2006
dbSNP: rs397509062
rs397509062
BRCA1
1 1.000 0.080 17 43104223 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs398122697
rs398122697
BRCA1
2 0.925 0.080 17 43049170 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs41293475
rs41293475
BRCA2
3 0.882 0.080 13 32332629 missense variant C/G;T snv 7.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs45551636
rs45551636
PALB2
1 1.000 0.080 16 23622972 missense variant C/G;T snv 1.6E-02 0.010 1.000 1 2015 2015