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: rs28359178
rs28359178
CYTB ; ND5 ; ND6
3 0.882 0.280 MT 13708 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs371077728
rs371077728
MRE11 ; MIR548L
6 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs3736265
rs3736265
PPARGC1A
7 0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05 0.010 1.000 1 2006 2006
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
dbSNP: rs4645959
rs4645959
MYC ; CASC11
3 0.882 0.080 8 127738294 missense variant A/C;G snv 1.6E-05; 2.3E-02 0.010 1.000 1 2005 2005
dbSNP: rs4843075
rs4843075
AKAP13
1 1.000 0.080 15 85581324 missense variant G/A;C snv 0.61; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs56343424
rs56343424
CYP1A1
1 1.000 0.080 15 74720496 missense variant C/A;T snv 2.1E-03; 3.3E-05 0.010 1.000 1 2006 2006
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
5 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs756522395
rs756522395
ATM
1 1.000 0.080 11 108257484 missense variant C/G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs758898660
rs758898660
ARHGEF28
1 1.000 0.080 5 73892052 missense variant G/A snv 4.4E-06 0.010 1.000 1 2006 2006
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs796096871
rs796096871
AKAP10
6 0.807 0.200 17 19909228 missense variant TG/CA mnv 0.010 1.000 1 2007 2007
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs80357007
rs80357007
BRCA1
1 1.000 0.080 17 43051107 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs80357125
rs80357125
BRCA1
3 0.882 0.080 17 43063940 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs80358505
rs80358505
BRCA2
1 1.000 0.080 13 32319249 missense variant A/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs876660702
rs876660702
BRCA1
4 0.851 0.160 17 43063333 splice region variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs878853646
rs878853646
CDKN2A
3 0.882 0.080 9 21971106 missense variant C/A;T snv 4.3E-06; 8.6E-06 0.010 1.000 1 2009 2009
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs996659898
rs996659898
CTCFL
1 1.000 0.080 20 57500314 missense variant G/C snv 0.010 1.000 1 2004 2004