Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879253753
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0