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: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3877899
rs3877899
SELENOP ; CCDC152
7 0.827 0.160 5 42801166 missense variant C/A;T snv 4.0E-06; 0.20 0.010 1.000 1 2014 2014
dbSNP: rs486055
rs486055
MMP10 ; WTAPP1
3 0.925 0.120 11 102779693 missense variant C/G;T snv 1.2E-05; 0.10 0.010 1.000 1 2014 2014
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2014 2014
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2014 2014
dbSNP: rs7579
rs7579
SELENOP ; CCDC152
6 0.807 0.200 5 42800706 3 prime UTR variant C/T snv 0.31 0.26 0.010 1.000 1 2014 2014
dbSNP: rs766407419
rs766407419
SERPINF2
1 1.000 0.040 17 1745008 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs77294580
rs77294580
ACE
1 1.000 0.040 17 63480396 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs8125581
rs8125581
MMP9
1 1.000 0.040 20 46010604 missense variant G/A snv 3.0E-04 3.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2013 2019
dbSNP: rs6511720
rs6511720
LDLR
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.810 1.000 2 2013 2017
dbSNP: rs3781590
rs3781590
LRP5
1 1.000 0.040 11 68391684 intron variant G/A snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs4988300
rs4988300
LRP5
2 0.925 0.120 11 68321363 intron variant G/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs201191171
rs201191171
MMP9 ; SLC12A5-AS1
2 0.925 0.080 20 46013279 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs773474756
rs773474756
MMP1 ; WTAPP1
2 0.925 0.080 11 102790467 missense variant T/C snv 8.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs1466535
rs1466535
LRP1
9 0.790 0.160 12 57140687 intron variant G/A;C snv 0.840 1.000 4 2011 2015
dbSNP: rs3019885
rs3019885
SLC30A8
2 0.925 0.120 8 117013406 intron variant T/A;G snv 0.710 1.000 2 2011 2015
dbSNP: rs1036095
rs1036095
TGFBR2
1 1.000 0.040 3 30620836 intron variant C/G snv 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2011 2011
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2011 2011
dbSNP: rs5516
rs5516
KLK1
6 0.827 0.120 19 50820217 missense variant C/G snv 0.69 0.67 0.010 1.000 1 2011 2011
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs764522
rs764522
TGFBR2 ; LOC105377015
3 0.882 0.080 3 30605058 upstream gene variant G/A;C snv 0.010 1.000 1 2011 2011