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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2003 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.060 1.000 6 2007 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.040 1.000 4 2007 2016
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.040 1.000 4 2003 2015
dbSNP: rs1045241
rs1045241
TNFAIP8
6 1.000 0.120 5 119393591 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2012 2013
dbSNP: rs1053667
rs1053667
TOGARAM1
4 0.925 0.120 14 45073835 3 prime UTR variant T/C snv 0.11 0.020 1.000 2 2014 2014
dbSNP: rs12211228
rs12211228
IRF4
2 1.000 0.120 6 408833 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2009 2009
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.020 1.000 2 2006 2014
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2017
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2009 2013
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2010 2015
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.020 1.000 2 2007 2009
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.020 1.000 2 2009 2018
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.020 1.000 2 2004 2015
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 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: 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