Disease: Cardiovascular Diseases
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs1137100
LEPR
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 39
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 28
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs137852912
PCSK9
0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 10
rs17465637
MIA3
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 11
rs1800947
CRP
0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 28
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 57
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs6136
SELP
0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 17
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs2943634 0.763 0.200 2 226203364 intergenic variant A/C;G snv 15
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs5182
AGTR1
0.742 0.160 3 148741608 synonymous variant C/T snv 0.49 0.41 16
rs1022113606
SOD3
0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 17
rs1799883
FABP2
0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 36
rs1799895
SOD3
0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 26
rs4961
ADD1
0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 27
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs1866389
THBS4
0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 9
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193