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: rs1186364060
rs1186364060
HFM1
1 1.000 0.080 1 91353084 missense variant C/T snv 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
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.020 1.000 2 2006 2012
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs113211432
rs113211432
BARD1
3 0.882 0.080 2 214767532 frameshift variant -/TG delins 0.010 1.000 1 2006 2006
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2013 2013
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: rs386654966
rs386654966
BARD1
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 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: 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: 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: 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: 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: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2006 2006
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2013 2013
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: 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: 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: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2006 2006
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: 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: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2012 2012