COMP, cartilage oligomeric matrix protein, 1311

N. diseases: 230; N. variants: 31
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE ×
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: rs137852652
rs137852652 		0.925 0.080 19 18787602 missense variant C/A snv
CUI: C4016660
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE 		0.700 0
dbSNP: rs28936668
rs28936668 		0.925 0.080 19 18786096 missense variant T/C snv
CUI: C4016660
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE 		0.700 0