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: rs1057519334
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0