Disease: Small for gestational age (disorder)
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12