Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs61764370 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 26
rs1057519975 0.649 0.480 17 7675209 missense variant A/C;G;T snv 21
rs2981582 0.695 0.360 10 121592803 intron variant A/G snv 0.58 20
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 17
rs1219648 0.716 0.320 10 121586676 intron variant A/G;T snv 16
rs13387042 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 15
rs1131691036 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 7
rs796096871 0.807 0.200 17 19909228 missense variant TG/CA mnv 6
rs2420946 0.851 0.160 10 121591810 intron variant T/C snv 0.56 4
rs876660702 0.851 0.160 17 43063333 splice region variant C/T snv 4
rs11200014 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 3
rs113211432 0.882 0.080 2 214767532 frameshift variant -/TG delins 3
rs1302297709 0.882 0.080 17 58703319 missense variant A/G snv 3
rs3112612 0.882 0.080 16 52601252 intron variant G/A snv 0.44 3
rs386654966 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 3
rs63750258 0.851 0.200 2 47800966 stop gained G/A;C;T snv 3
rs80357125 0.882 0.080 17 43063940 missense variant C/A;G;T snv 3
rs886039958 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 3
rs28359178
CYTB ; ND5 ; ND6
0.882 0.280 MT 13708 missense variant G/A snv 2
rs1064795860 1.000 0.080 17 7675155 missense variant G/A snv 1
rs11075884 1.000 0.080 16 71321332 intergenic variant A/C;G snv 1