Disease: Hypoplasia of spine ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918130
rs121918130 		0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0