EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Disease: Myopathy ×
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: rs1557182317
rs1557182317 		0.925 0.160 X 154379790 frameshift variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs139983160
rs139983160 		1.000 0.080 X 154380781 missense variant C/T snv 2.1E-04 2.0E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007