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: rs3754701
rs3754701
RAMP1
4 0.882 0.120 2 237858561 upstream gene variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs4944832
rs4944832
P2RY2
1 1.000 0.120 11 73238127 upstream gene variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs56095120
rs56095120
SMTN
1 1.000 0.120 22 31100540 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs5888
rs5888
SCARB1
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs750272074
rs750272074
ROS1
2 1.000 0.120 6 117362705 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs755403632
rs755403632
BMS1
1 1.000 0.120 10 42792991 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs7590387
rs7590387 		3 0.882 0.120 2 237913557 downstream gene variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs774229224
rs774229224
PLG
6 0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs774320676
rs774320676
CTSS
1 1.000 0.120 1 150750091 missense variant A/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2006 2006
dbSNP: rs928508030
rs928508030
CTSS
1 1.000 0.120 1 150765698 splice region variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs9579646
rs9579646
ALOX5AP
6 0.851 0.160 13 30736442 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2000 2014
dbSNP: rs755703581
rs755703581
PDX1
3 0.925 0.120 13 27920295 missense variant G/A snv 2.3E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121918474
rs121918474
PROS1
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1801273
rs1801273
FABP1
3 0.925 0.200 2 88126256 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs55951658
rs55951658
CYP3A4
7 0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs3731245
rs3731245
CDKN2A
2 0.925 0.120 9 21972446 intron variant C/T snv 6.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs3789683
rs3789683
F3
3 0.925 0.200 1 94530506 missense variant C/T snv 6.5E-03 1.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2008 2008