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: rs1158061584
rs1158061584
N4BP2L2
13 32443086 frameshift variant T/-;TT delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0