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: rs5273
rs5273
PTGS2
6 0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2007 2007
dbSNP: rs1440032367
rs1440032367
COL11A2
3 0.925 0.080 6 33189169 missense variant G/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2007 2007
dbSNP: rs202011365
rs202011365
IL4 ; LOC105379176
2 0.925 0.080 5 132679748 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs3219145
rs3219145
PARP1
4 0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2008 2008
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2008 2008
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2008 2008
dbSNP: rs12485716
rs12485716
CASR
2 0.925 0.080 3 122260843 intron variant G/A snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1450640054
rs1450640054
IGFBP3
2 0.925 0.080 7 45921122 missense variant T/C snv 1.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs2167270
rs2167270
LEP
17 0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs2270916
rs2270916
CASR
6 0.851 0.120 3 122282252 intron variant T/C snv 0.13 0.11 0.010 1.000 1 2008 2008
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2008 2008
dbSNP: rs3730089
rs3730089
PIK3R1
5 0.827 0.280 5 68292320 missense variant G/A snv 0.18 0.22 0.010 1.000 1 2008 2008
dbSNP: rs4678174
rs4678174
CASR
2 0.925 0.080 3 122282024 intron variant C/T snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs6588147
rs6588147
LEPR
4 0.851 0.080 1 65469811 intron variant G/A snv 0.70 0.010 1.000 1 2008 2008
dbSNP: rs7799039
rs7799039
LOC105375494
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2005 2009
dbSNP: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.020 1.000 2 2009 2009
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 < 0.001 1 2009 2009
dbSNP: rs11832059
rs11832059
VDR
2 0.925 0.080 12 47879066 missense variant A/C;G snv 4.0E-06; 1.9E-03 0.010 1.000 1 2009 2009