COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Disease: Metaphyseal chondrodysplasia ×
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: rs111033548
rs111033548 		0.925 0.080 6 116120220 stop gained G/T snv
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018