MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
Disease: Multiple Epiphyseal Dysplasia ×
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: rs104893645
rs104893645 		0.925 0.080 2 20005953 missense variant A/T snv
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013