Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 72
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1137100 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 39
rs4762
AGT
0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 35
rs11575937 0.653 0.480 1 156136985 missense variant G/A;T snv 29
rs10754558 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 20
rs9651118 0.683 0.480 1 11802157 intron variant T/C snv 0.18 20
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs11206510 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 16
rs4606 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 16
rs2890565 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 15
rs142433332 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 14
rs1553201258 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs3811463 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 14
rs5355 0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02 14
rs5068 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 13
rs1177506410
AGT
0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 12
rs1275805226
AGT
0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 12