Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs72653762 0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 13
rs1569540688 0.925 0.240 X 153725586 missense variant T/C snv 4
rs1562846694 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs587776625 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs397514452
ADK
1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 5
rs886041116 0.776 0.240 20 50892526 stop gained G/A snv 11
rs1131692272 0.851 0.240 2 100006808 missense variant C/T snv 8
rs121912708 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 3
rs140845195 1.000 0.040 5 126545020 splice acceptor variant C/A;T snv 1.6E-05; 4.0E-06 3
rs121912707 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 2
rs750693623 1.000 0.040 5 126595165 frameshift variant C/- del 5.6E-04 2
rs1444879414 5 126595148 frameshift variant -/T delins 6.0E-06 1
rs778003597 5 126559300 frameshift variant -/G delins 8.0E-06 7.0E-06 1
rs369160589 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1009298200 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127 0.742 0.400 16 5079078 missense variant T/C snv 34
rs398122394 0.763 0.240 X 111685040 missense variant A/G snv 16
rs1560162116 0.882 0.080 3 184242930 missense variant T/C snv 5
rs1560164682 0.882 0.080 3 184245709 splice region variant T/C snv 5
rs786204473 0.925 0.080 1 21573673 missense variant G/A snv 2
rs879253753 0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs886041125 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs1555525115 0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 5
rs1567230528 1.000 15 50949824 splice acceptor variant A/C snv 2