Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28357984
ND2 ; COX1
0.851 0.160 MT 5178 missense variant C/A snv 6
rs104886142 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 10
rs2074192 0.827 0.160 X 15564667 intron variant C/T snv 0.40 9
rs2106809 0.827 0.120 X 15599938 intron variant A/G snv 0.19 8
rs281874674 0.827 0.280 X 108597479 missense variant G/C;T snv 8
rs3761581 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 5
rs2285666 0.925 0.160 X 15592225 splice region variant C/T snv 6.2E-06; 0.28 0.23 4
rs4240157 0.925 0.080 X 15568841 intron variant C/T snv 4
rs4646188 0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02 4
rs2968915 1.000 0.040 X 40580182 intron variant G/A snv 3
rs56204867 0.925 0.040 X 129656490 upstream gene variant A/G snv 0.11 3
rs5963409
OTC
1.000 0.080 X 38351716 intron variant A/C;G snv 3
rs755559514 0.925 0.040 X 129648648 missense variant T/C;G snv 1.2E-05; 6.1E-06 3
rs1800321
OTC
X 38367350 missense variant A/G snv 0.19 0.26 2
rs1978124 X 15599940 intron variant T/A;C snv 2
rs5193 1.000 0.040 X 116173571 3 prime UTR variant G/T snv 0.19 2
rs1201177282
DMD
X 31172390 missense variant T/C snv 5.5E-06 9.4E-06 1
rs5975126 X 129646415 3 prime UTR variant G/A;C snv 1
rs794729002
DMD
X 31223109 missense variant T/C snv 1
rs909656 X 129648585 intron variant G/A;T snv 1.4E-02 1
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs738409 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs1232898090 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs4633 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 25
rs2071746 0.708 0.320 22 35380679 intron variant A/T snv 0.49 18