Disease: Cardiovascular Diseases
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47 77
rs429358
APOE
0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 66
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs11887534
ABCG5 ; ABCG8
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 29
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 28
rs76863441
PLA2G7
0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 25
rs693
APOB
0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 24
rs5742904
APOB
0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 22
rs505151
PCSK9
0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 18
rs17321515 0.776 0.200 8 125474167 intron variant A/G snv 0.49 16
rs4580704
CLOCK
0.790 0.200 4 55460540 intron variant G/C snv 0.69 13
rs137852912
PCSK9
0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 10
rs1984112
CD36
0.807 0.280 7 80613604 intron variant A/G snv 0.33 8
rs562556
PCSK9
0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 8
rs879254925
MIR6886 ; LDLR
0.790 0.120 19 11113680 missense variant G/T snv 8