LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: Osteopoikilosis (disorder) ×
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: rs267607216
rs267607216 		0.851 0.120 12 65245931 stop gained G/A snv
CUI: C0029455
Disease: Osteopoikilosis (disorder)
Osteopoikilosis (disorder) 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607217
rs267607217 		0.827 0.120 12 65239970 stop gained C/T snv
CUI: C0029455
Disease: Osteopoikilosis (disorder)
Osteopoikilosis (disorder) 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009