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: rs587778883
rs587778883
MLH1
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2004 2004
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.870 23 2005 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.833 12 2005 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 1.000 10 2005 2016
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2005 2005
dbSNP: rs1165109290
rs1165109290
SOD2
2 0.925 0.080 6 159692850 synonymous variant G/A snv 4.2E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2005 2005
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.030 1.000 3 2006 2019
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.020 1.000 2 2006 2007
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2006 2006
dbSNP: rs768231616
rs768231616
CYP1A2
3 0.882 0.120 15 74750069 frameshift variant CT/- delins 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 1.000 11 2007 2019
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.080 1.000 8 2007 2014
dbSNP: rs1235001018
rs1235001018
GOLGB1
2 0.925 0.080 3 121729917 missense variant T/C snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs1864169
rs1864169
GTF2A1 ; SNORA79
5 0.851 0.200 14 81203689 intron variant G/T snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.080 1.000 8 2008 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.070 1.000 7 2008 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.750 4 2008 2017
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2008 2014
dbSNP: rs1452231640
rs1452231640
POLB
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 < 0.001 1 2008 2008
dbSNP: rs2854746
rs2854746
IGFBP3
14 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs746782366
rs746782366
CBS
2 0.925 0.120 21 43072117 missense variant C/G;T snv 8.1E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs756065494
rs756065494
MTR
2 0.925 0.120 1 236835605 missense variant A/G snv 2.8E-05 0.010 1.000 1 2008 2008