Disease: Hypercholesterolemia
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
rs1801260
CLOCK ; TMEM165
0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 28
rs76863441
PLA2G7
0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 25
rs4580704
CLOCK
0.790 0.200 4 55460540 intron variant G/C snv 0.69 13
rs7566605
LOC107985940
0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 11
rs55951658
CYP3A4
0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05 7
rs6720173
ABCG5 ; DYNC2LI1
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21 5
rs768925824
LDLR
0.925 0.040 19 11110693 missense variant G/A snv 4.0E-06 4