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: rs11599672
rs11599672
PLCE1 ; LOC105378438
3 0.925 0.080 10 93993019 regulatory region variant T/G snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1360602468
rs1360602468
KLC1 ; XRCC3
2 0.925 0.080 14 103698904 missense variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1380228918
rs1380228918
ERCC2
3 1.000 0.040 19 45364065 synonymous variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2238151
rs2238151
ALDH2
3 1.000 0.040 12 111774029 intron variant T/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2011 2011
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs710100
rs710100
TNFAIP2
3 1.000 0.040 14 103135941 missense variant A/G snv 0.64 0.59 0.010 1.000 1 2011 2011
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2011 2011
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs8126
rs8126
TNFAIP2
8 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2007 2012
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 1.000 2 2011 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2012
dbSNP: rs749710704
rs749710704
BHMT ; DMGDH
7 0.790 0.160 5 79119289 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2012 2012
dbSNP: rs755174338
rs755174338
ERCC2
15 0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05 0.020 1.000 2 2011 2012
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2012 2012
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2012 2012