Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs20541 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 52
rs1178187217 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs1800925 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs1805015 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 22
rs4143094 0.752 0.240 10 8047173 intron variant T/G snv 0.70 12
rs324011 0.742 0.360 12 57108399 intron variant C/T snv 0.32 12
rs4795405 0.851 0.160 17 39932164 intron variant T/A;C snv 6
rs750444386 0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05 6
rs320995 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 4
rs2073440
HDC
0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02 4
rs2229542 0.925 0.160 7 134450869 missense variant T/C snv 1.3E-02 1.0E-02 3
rs8113232 0.925 0.160 19 3586545 synonymous variant G/A snv 4.0E-06; 0.14 0.24 3
rs379568 0.925 0.160 10 8083856 intergenic variant G/A snv 0.18 2
rs1058240 0.925 0.160 10 8074635 3 prime UTR variant G/A snv 0.81 2
rs12122228 0.925 0.160 1 60890848 intron variant G/A;T snv 2
rs1345191484 0.925 0.160 18 75286334 synonymous variant C/T snv 4.0E-06 2