Disease: Opsismodysplasia ×
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: rs397514510
rs397514510 		1.000 0.080 11 72233098 missense variant C/T snv
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013