Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs28935197 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 10
rs5030868 0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04 9
rs104894845 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 8
rs114209171 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 5
rs371045754
F9
0.882 0.200 X 139530726 upstream gene variant A/C snv 5.5E-06 1.9E-05 4
rs2071746 0.708 0.320 22 35380679 intron variant A/T snv 0.49 18
rs73885319 0.851 0.120 22 36265860 missense variant A/G snv 1.6E-02 6.6E-02 6
rs4044210 0.925 0.080 22 46390418 missense variant T/A;C snv 4.0E-06; 0.17 3
rs6007897 0.925 0.080 22 46384624 missense variant T/C snv 0.16 0.28 3
rs5998322 22 32229223 synonymous variant C/T snv 6.6E-02 7.7E-02 1
rs5998331 22 32238890 intron variant G/A snv 7.8E-02 1
rs731991 22 30629202 downstream gene variant A/G;T snv 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs63750579
APP
0.742 0.280 21 25891856 missense variant C/G;T snv 13
rs1041740 0.807 0.320 21 31667849 intron variant C/T snv 0.24 8
rs63750671
APP
0.790 0.240 21 25891858 missense variant G/C snv 8
rs10432782 0.807 0.160 21 31664078 intron variant T/G snv 0.19 7
rs460976 0.851 0.120 21 41463567 downstream gene variant A/G;T snv 7
rs9974610 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 3
rs2822388 21 14035713 intron variant A/G snv 4.9E-02 1
rs720470 21 37561586 intergenic variant T/C snv 0.28 1
rs7283054 21 30146989 intergenic variant G/C snv 1.3E-02 1
rs3918242 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54