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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 11 2003 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2004 2014
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2005 2005
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: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2005 2005
dbSNP: rs3093075
rs3093075 		5 0.882 0.120 1 159710123 upstream gene variant G/T snv 0.13 0.010 1.000 1 2011 2011
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: 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: 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 2015 2015
dbSNP: rs35301225
rs35301225
MIR34A ; MIR34AHG
5 0.882 0.080 1 9151743 mature miRNA variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2015 2015
dbSNP: rs374400
rs374400
OBSCN
2 0.925 0.080 1 228347383 intron variant C/T snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs4548444
rs4548444
MAPKAPK2
2 0.925 0.080 1 206716793 intron variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2016 2016
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: 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: rs6598964
rs6598964
LIN28A
3 0.882 0.080 1 26419836 intron variant A/G snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs67376798
rs67376798
DPYD
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.010 1.000 1 2017 2017
dbSNP: rs730881834
rs730881834
MUTYH
3 0.882 0.120 1 45332181 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs9651118
rs9651118
MTHFR
20 0.683 0.480 1 11802157 intron variant T/C snv 0.18 0.010 1.000 1 2017 2017