MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related ×
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: rs104893639
rs104893639 		1.000 0.080 2 20003167 missense variant A/T snv
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2004 2004