Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9