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: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.020 1.000 2 2010 2014
dbSNP: rs10758278
rs10758278
PHF24
1 1.000 0.040 9 34825306 intron variant G/A snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs12692386
rs12692386
ADAM17
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs1418184396
rs1418184396
SERPINF1
1 1.000 0.040 17 1776722 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs1524668
rs1524668
ADAM17
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs2070863
rs2070863
SERPINF2
1 1.000 0.040 17 1745208 missense variant C/G;T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2276109
rs2276109
MMP12
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs2306691
rs2306691
LRP1 ; LRP1-AS
1 1.000 0.040 12 57145019 missense variant A/G snv 2.0E-05 2.1E-05 0.010 1.000 1 2014 2014
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: rs1466535
rs1466535
LRP1
9 0.790 0.160 12 57140687 intron variant G/A;C snv 0.840 1.000 4 2011 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.030 1.000 3 2014 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: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 1.000 2 2014 2015