Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779388 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs531163149 1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06 4
rs80338708 1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05 3
rs762425351 0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 7
rs754129466 1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05 2
rs137852832 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs587779406 1.000 0.120 15 72346552 synonymous variant G/A snv 8.0E-05 1.0E-04 3
rs80338686
BTD
0.925 0.080 3 15645468 missense variant C/A;T snv 3.3E-05; 7.5E-05 3
rs62514895
PAH
1.000 0.120 12 102917066 splice region variant C/A;T snv 7.2E-05 2
rs148234606 0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 4
rs140119177 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs121918329 1.000 0.080 2 190290425 missense variant T/C snv 6.4E-05 1.4E-05 2
rs137853105 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs778127154 1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs587784543 1.000 19 36083171 missense variant G/A snv 5.3E-05 6.3E-05 2
rs149830411 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs768933093 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs757347274 0.925 1 235470849 splice donor variant C/T snv 4.8E-05 1.4E-05 3
rs750331613 0.882 0.040 4 93515346 missense variant C/T snv 4.8E-05 2.1E-05 5
rs863225422 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs80338701 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 13
rs137852863 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs201889294 0.925 6 98899282 stop gained G/A;T snv 4.0E-05 3
rs141949212 0.882 0.160 15 27845052 missense variant C/T snv 4.0E-05 2.0E-04 5
rs763243200 2 42048839 splice donor variant G/A;T snv 3.8E-05 1