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: rs978458
rs978458
IGF1 ; LINC02456
2 0.925 0.120 12 102408461 intron variant T/C snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs9621187
rs9621187
SMTN
1 1.000 0.120 22 31103532 non coding transcript exon variant A/G snv 0.35 0.010 1.000 1 2012 2012
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: rs9551963
rs9551963
ALOX5AP
6 0.851 0.160 13 30758410 intron variant A/C;T snv 0.020 1.000 2 2012 2014
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs9333025
rs9333025
CYP4A11
8 0.851 0.200 1 46931231 intron variant C/T snv 9.4E-02 0.010 1.000 1 2008 2008
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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2003 2009
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: rs7956547
rs7956547
IGF1
2 0.925 0.120 12 102465038 intron variant T/C snv 0.25 0.010 1.000 1 2012 2012
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: 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: rs768963
rs768963
CACTIN
2 0.925 0.120 19 3615409 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2006 2015
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: 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: 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: 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: 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: rs7291467
rs7291467
LGALS2
4 0.851 0.160 22 37576621 intron variant G/A snv 0.49 0.010 1.000 1 2008 2008
dbSNP: rs710968
rs710968
LIMK1
2 0.925 0.120 7 74083398 intron variant A/G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs7042521
rs7042521
CACNA1B ; LOC100133077
1 1.000 0.120 9 137889440 intron variant C/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs699473
rs699473
SOD3
5 0.827 0.160 4 24795181 intron variant C/T snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs688
rs688
LDLR
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.010 1.000 1 2012 2012
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: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2006 2006