Disease: Serum LDL cholesterol measurement
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 28
rs599839
PSRC1
0.724 0.360 1 109279544 downstream gene variant G/A;C snv 27
rs646776
CELSR2
0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 25
rs1535
FADS2
0.752 0.240 11 61830500 intron variant A/G snv 0.31 24
rs693
APOB
0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 24
rs629301
CELSR2
0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 22
rs635634 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 22
rs174535
MYRF ; TMEM258
0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 19
rs102275
TMEM258
0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 18
rs174546
FADS1 ; FADS2
0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28 17
rs174548
FADS2 ; FADS1
0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 17
rs11206510 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 16
rs12740374
CELSR2
0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 16
rs1042034
APOB
0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 15
rs6511720
LDLR
0.790 0.120 19 11091630 intron variant G/T snv 0.12 15
rs157580
TOMM40
0.882 0.160 19 44892009 intron variant G/A snv 0.69 14
rs174576
FADS2
0.851 0.200 11 61836038 intron variant C/A;T snv 14
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 14
rs673548
APOB
0.925 0.120 2 21014672 intron variant G/A;T snv 14
rs7528419
CELSR2
0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 13
rs174601
FADS2
0.925 0.080 11 61855668 non coding transcript exon variant C/A;T snv 12
rs676210
APOB
0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 12
rs174570
FADS2
0.882 0.200 11 61829740 intron variant C/T snv 0.15 11
rs445925
APOC1
0.882 0.080 19 44912383 non coding transcript exon variant G/A;C snv 10