Source: CURATED ×
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 64
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 43
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 30
rs780093
GCKR
0.763 0.240 2 27519736 intron variant T/C snv 0.68 25
rs174547
FADS2 ; FADS1
0.742 0.240 11 61803311 intron variant T/C snv 0.28 23
rs635634 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 22
rs629301
CELSR2
0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 22
rs1535
FADS2
0.752 0.240 11 61830500 intron variant A/G snv 0.31 22
rs579459 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 21
rs247617 0.827 0.160 16 56956804 regulatory region variant C/A snv 0.29 20
rs651007 0.851 0.160 9 133278431 upstream gene variant T/A;C snv 20
rs261332
ALDH1A2 ; LIPC-AS1 ; LIPC
0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80 20
rs2074755
BAZ1B
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02 20
rs1728918 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 19
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 19
rs657152
ABO
0.882 0.200 9 133263862 intron variant A/C;T snv 19
rs174535
MYRF ; TMEM258
0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 19
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 18
rs11066280
HECTD4
0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 18
rs174533
MYRF ; TMEM258
0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29 18
rs799165 0.851 0.120 7 73637727 intergenic variant T/A snv 0.13 17
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv 17
rs174537
TMEM258 ; MYRF
0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 17
rs4246215
FADS2 ; FEN1
0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 16
rs102275
TMEM258
0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 16