Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993 0.716 0.440 5 161331056 missense variant C/T snv 53
rs113993959 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 19
rs74597325 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 16