Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607499
DES
0.851 0.160 2 219418809 missense variant A/G;T snv 4
rs737337 0.925 0.040 19 11236817 synonymous variant T/C snv 0.15 0.20 6
rs587782927
DSP
0.882 0.080 6 7574084 splice region variant AG/- delins 4
rs28763958
DSP
0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05 3
rs5370 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 37
rs1258130495 0.882 0.040 4 147485727 missense variant G/A snv 3
rs899115126 0.882 0.080 4 147542603 missense variant G/C snv 3
rs1136201 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs10932374 0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 2
rs13003941 0.925 0.040 2 211378978 3 prime UTR variant G/C;T snv 0.26 2
rs1595064 0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv 2
rs1595065 0.925 0.040 2 211377916 3 prime UTR variant G/A snv 0.73 2
rs3748960 0.925 0.040 2 211383109 3 prime UTR variant C/T snv 0.96 2
rs748379243 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 6
rs1535 0.752 0.240 11 61830500 intron variant A/G snv 0.31 24
rs6787362 0.925 0.040 3 69178228 intron variant A/G snv 9.3E-02 2
rs1800437 0.827 0.160 19 45678134 missense variant G/C snv 0.18 0.17 13
rs10423928 0.807 0.200 19 45679046 intron variant T/A snv 0.19 12
rs6026584 0.925 0.040 20 58894018 intron variant T/C snv 0.70 3
rs6123837 0.925 0.040 20 58890516 synonymous variant G/A snv 0.30 2
rs2230345 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 6
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs2073440
HDC
0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02 4
rs17740607
HDC
0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 2
rs765545512
HFE
0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05 6