Source: CURATED ×
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 43
rs1135401743
HAAO ; MTA3
0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 11
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 8
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 6
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 4
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 2
rs202676
FOLH1
0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33 2
rs2851391
CBS
1.000 0.080 21 43067294 intron variant T/C snv 1
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 1
rs34181110
MTHFD1
0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 1
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 1