Disease: Low density lipoprotein cholesterol measurement
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs964184
ZPR1
0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 47
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 28
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 24
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 24
rs651007 0.851 0.160 9 133278431 upstream gene variant T/A;C snv 22
rs17696736
NAA25
0.827 0.240 12 112049014 intron variant A/G snv 0.30 18
rs11065987 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 17
rs651821
APOA5
0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 17
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 14
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24 13
rs649129 1.000 0.080 9 133278860 upstream gene variant T/C;G snv 10
rs630014
ABO
9 133274306 intron variant G/A;C snv 9
rs8177318
INHCAP ; TF
3 133748533 missense variant T/A snv 1.6E-04 2.9E-04 7
rs9376090
HBS1L
6 135090090 intron variant T/C snv 0.19 7
rs4129767
PGS1
17 78407903 intron variant G/A snv 0.46 6
rs4969183
PGS1
17 78397291 intron variant A/G snv 0.46 5
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02 5
rs17561950
PGS1
17 78396063 intron variant G/A snv 0.45 4
rs221797
GIGYF1
7 100688351 5 prime UTR variant A/C;T snv 2