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: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.020 0.500 2 2009 2016
dbSNP: rs2647012
rs2647012 		7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.020 1.000 2 2013 2017
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.020 1.000 2 2004 2007
dbSNP: rs3769821
rs3769821
CASP8
4 0.851 0.200 2 201258707 intron variant C/T snv 0.57 0.020 1.000 2 2011 2013
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.020 1.000 2 2011 2013
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 0.500 2 2017 2017
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.020 1.000 2 2013 2018
dbSNP: rs10008492
rs10008492 		2 1.000 0.120 4 38764099 intergenic variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1003421753
rs1003421753
IL12A ; IL12A-AS1
1 1.000 0.120 3 159989088 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1039312028
rs1039312028
BAX
1 1.000 0.120 19 48955724 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1041163
rs1041163
VCAM1
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs1044129
rs1044129
RYR3 ; AVEN
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1049216
rs1049216
CASP3
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2007 2007
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs10993994
rs10993994
MSMB
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs11038689
rs11038689
CRY2
3 0.882 0.160 11 45852713 intron variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1127717
rs1127717
ALDH1L1 ; ALDH1L1-AS1
3 0.925 0.160 3 126107216 missense variant T/C snv 0.18 0.20 0.010 1.000 1 2013 2013
dbSNP: rs11337
rs11337
GOLGA7
4 0.925 0.120 8 41510767 3 prime UTR variant T/G snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2010 2010