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: rs1055368753
rs1055368753
BRCA1
2 0.925 0.120 17 43092010 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1057516430
rs1057516430
FANCA
2 0.925 0.120 16 89811060 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1057519413
rs1057519413
RAD51
2 0.925 0.120 15 40729955 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs11571707
rs11571707
BRCA2
7 0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs139235751
rs139235751
FANCA
2 0.925 0.120 16 89775768 missense variant C/G;T snv 2.4E-03; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs147105770
rs147105770
ERCC4
8 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1555524842
rs1555524842
RFWD3
3 0.882 0.120 16 74628505 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs17233497
rs17233497
FANCA
2 0.925 0.120 16 89748744 missense variant G/A snv 5.1E-02 5.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 < 0.001 1 2018 2018
dbSNP: rs200755477
rs200755477
EFCAB6 ; EFCAB6-AS1
3 0.925 0.120 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs267606997
rs267606997
RAD51C
4 0.882 0.120 17 58709926 missense variant G/A snv 4.4E-05; 1.6E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs28897746
rs28897746
BRCA2
2 1.000 0.120 13 32363259 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs367924414
rs367924414
FANCC ; AOPEP
2 0.925 0.120 9 95117321 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs397509403
rs397509403
ERCC4
4 0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs587777732
rs587777732
HNF4A ; MIR3646
9 0.763 0.240 20 44406195 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs761278503
rs761278503
BRIP1
2 0.925 0.120 17 61683780 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs771218574
rs771218574
FANCL
2 0.925 0.120 2 58241304 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs786202344
rs786202344
BRCA2
1 1.000 0.120 13 32357926 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs80358638
rs80358638
BRCA2
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs80359065
rs80359065
BRCA2
5 0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04 0.010 1.000 1 2003 2003