Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1253810269 0.882 0.080 1 26696971 missense variant G/A snv 7.0E-06 3
rs12564445 0.851 0.040 1 201376359 intron variant G/A snv 0.27 5
rs12567209 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 6
rs1258130495 0.882 0.040 4 147485727 missense variant G/A snv 3
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs13003941 0.925 0.040 2 211378978 3 prime UTR variant G/C;T snv 0.26 2
rs1303946678 0.925 0.040 22 42126851 missense variant C/G snv 3
rs13058338 1.000 0.040 22 37236730 intron variant T/A;G snv 4
rs1320702652 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 11
rs1337916669 0.925 0.040 6 26092879 missense variant G/T snv 2
rs1344172059 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs140226130 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 8
rs141322087 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1429117513 0.925 0.040 12 6775316 synonymous variant T/C snv 4.0E-06 2
rs150821281 0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 7
rs1535 0.752 0.240 11 61830500 intron variant A/G snv 0.31 24
rs1544223 1.000 0.040 1 111503935 intron variant C/T snv 0.72 1
rs1553265736 0.925 0.040 1 156136080 missense variant G/C snv 4
rs1559279177
HJV
0.851 0.160 1 146018661 frameshift variant G/- del 5
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
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1739843 0.882 0.040 1 16016759 intron variant T/C snv 0.62 4
rs17740607
HDC
0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 2
rs17859821 1.000 0.040 16 55478141 intron variant G/A;C snv 0.11 2