Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs765498367
LOC105373312 ; AMMECR1
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 6
rs1569405174
LOC105373312 ; AMMECR1
X 110317618 frameshift variant G/- delins 1