EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Disease: Neuromuscular Diseases ×
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: rs727503036
rs727503036 		X 154380232 splice acceptor variant A/G snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 6 1975 1999
dbSNP: rs730880352
rs730880352 		X 154381072 frameshift variant -/TGGGC delins
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 3 1995 2007
dbSNP: rs727504901
rs727504901 		X 154379688 splice acceptor variant A/G snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 2 1995 2007