Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1800797 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs368087026 0.637 0.520 21 45530890 missense variant G/A snv 33
rs5742905
CBS
0.701 0.360 21 43063074 missense variant A/G snv 22
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv 17
rs1569686 0.752 0.400 20 32779273 intron variant G/A;C;T snv 15
rs61748421 0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs1457092 0.790 0.320 19 17193427 intron variant C/A snv 0.44 8
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79 8
rs121912594 0.882 0.160 2 210675762 missense variant A/C snv 7
rs12325817 0.807 0.320 17 17583205 intron variant C/A;G;T snv 7
rs562625029
CBS
0.827 0.280 21 43058192 stop gained G/A snv 5
rs711 0.851 0.200 21 38823135 3 prime UTR variant A/C;G snv 4
rs9878047 0.851 0.160 3 9943773 intron variant T/C snv 0.38 4
rs2506004
RET
0.882 0.160 10 43086825 intron variant A/C;T snv 3
rs6962966 0.925 0.120 7 78174806 intron variant A/G snv 0.50 3
rs9024 0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02 3
rs10763976 0.925 0.120 10 34275364 intron variant G/A snv 0.42 2
rs11254 0.925 0.120 21 38824464 3 prime UTR variant C/T snv 0.34 2
rs1331959399 0.925 0.120 7 19117256 synonymous variant T/C snv 2
rs1496770 0.925 0.120 7 78629694 intron variant C/T snv 0.43 2
rs199683090 0.925 0.120 21 45531476 missense variant C/T snv 2