Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs869320717
ALX4
0.925 0.120 11 44309772 frameshift variant C/- del 3