LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: Melorheostosis with Osteopoikilosis ×
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: rs267607217
rs267607217 		0.827 0.120 12 65239970 stop gained C/T snv
CUI: C3149695
Disease: Melorheostosis with Osteopoikilosis
Melorheostosis with Osteopoikilosis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0