Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554329552 1.000 7 5529265 missense variant G/C snv 1
rs797044950 1.000 7 5528546 missense variant G/A;C snv 1
rs1555810308 1.000 20 50893377 stop gained C/T snv 1
rs1555524861 1.000 16 89279215 stop gained G/A snv 1
rs1555526796 1.000 16 89281005 frameshift variant A/- delins 1
rs1555527497 1.000 16 89281640 frameshift variant A/- del 1
rs1555529052 1.000 16 89284048 frameshift variant T/- del 1
rs1555529726 1.000 16 89285153 frameshift variant T/- delins 1
rs1555529734 1.000 16 89285160 frameshift variant CT/- delins 1
rs1335804396 1.000 14 31066213 missense variant T/C snv 7.0E-06 1
rs568176223 1.000 14 31072908 stop gained G/A;T snv 3.2E-05 1.4E-05 1
rs1554235792 1.000 6 157201064 stop gained C/G snv 1
rs1555155263 1.000 12 45851563 frameshift variant TTAC/- delins 1
rs1303653650 1.000 1 16996059 stop gained G/A snv 1.4E-05 1
rs1555859157 1.000 19 41968833 missense variant A/G snv 1
rs748318386
AUH
1.000 9 91220824 missense variant G/A;T snv 4.4E-05 1
rs1555384301 1.000 14 99257660 stop gained G/A snv 1
rs1555756091 1.000 19 13298847 frameshift variant -/A ins 1
rs1553766262 1.000 3 122257279 missense variant C/A snv 1
rs201091657 1.000 3 122261684 missense variant G/A;T snv 1.6E-05 1
rs797044916 1.000 1 22078546 missense variant A/G snv 1
rs1555951981 1.000 X 18604131 frameshift variant -/AC delins 1
rs1266747910 1.000 3 134537160 frameshift variant C/- delins 1.6E-05 1
rs763001827 1.000 3 134495351 stop gained C/T snv 2.8E-05 7.0E-05 1
rs1555445563 1.000 15 93012354 missense variant G/T snv 1