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: rs121918460
rs121918460 		0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0