Disease: Hypertriglyceridemia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1260326
GCKR
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 81
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs662799
APOA5
0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 33
rs780093
GCKR
0.763 0.240 2 27519736 intron variant T/C snv 0.68 30
rs2074755
BAZ1B
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 20
rs1800588
ALDH1A2 ; LIPC
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 16
rs3812316
MLXIPL
0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02 14
rs1260333 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 12
rs17145738
TBL2
0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11 11
rs5128
APOC3
0.925 0.080 11 116832924 3 prime UTR variant G/C snv 0.84 0.87 8
rs7350481 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 8
rs10790162
BUD13
0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 7
rs1168013
DOCK7
1.000 0.120 1 62531167 intron variant C/G;T snv 6
rs1558861 11 116736721 regulatory region variant C/G;T snv 5
rs5072
APOA1 ; APOA1-AS
11 116836867 intron variant A/G snv 0.89 5
rs10889332
DOCK7
1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39 4
rs3825041
BUD13
11 116760991 intron variant T/A;C snv 0.89 2
rs7016880 8 20019235 intergenic variant G/C snv 8.5E-02 2