Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs1553551705
SATB2
1.000 2 199349065 frameshift variant GT/- delins 2