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: rs397507505
rs397507505 		0.827 0.240 12 112450352 missense variant A/C;G;T snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0