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: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
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: 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: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2010 2010
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: rs530464947
rs530464947
BRCA1
1 1.000 0.080 17 43092137 missense variant T/C snv 1.6E-05 4.2E-05 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: rs566164
rs566164
CCDC162P
2 1.000 0.080 6 109185258 intron variant A/G snv 0.73 0.010 1.000 1 2013 2013
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 < 0.001 1 2012 2012
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: rs6960867
rs6960867
AKAP9
3 0.882 0.080 7 92083384 missense variant A/G snv 0.36 0.34 0.010 1.000 1 2008 2008
dbSNP: rs6964587
rs6964587
AKAP9
4 0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42 0.010 1.000 1 2008 2008
dbSNP: rs747364414
rs747364414
BRCA1
3 0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs751942421
rs751942421
RASSF7 ; LMNTD2
1 1.000 0.080 11 562702 missense variant C/T snv 1.4E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs753904217
rs753904217
GSTM1 ; GSTM2
1 1.000 0.080 1 109690557 missense variant G/A snv 1.9E-04 6.6E-05 0.010 1.000 1 2006 2006