Disease: Metachondromatosis ×
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: rs121918466
rs121918466 		0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0