Disease: Emery-Dreifuss Muscular Dystrophy 4 ×
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: rs119103246
rs119103246 		1.000 0.120 6 152151987 missense variant C/T snv 4.0E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs119103248
rs119103248 		1.000 0.120 6 152140027 missense variant C/T snv 6.7E-04 8.2E-04
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs886042380
rs886042380 		0.925 0.120 6 152334218 frameshift variant T/- delins
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2007 2013
dbSNP: rs1564367104
rs1564367104 		0.925 0.120 6 152483215 frameshift variant GA/- delins
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs119103247
rs119103247 		1.000 0.120 6 152141290 missense variant C/A;T snv 8.0E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554451078
rs1554451078 		1.000 0.120 6 152325174 stop gained C/T snv
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs606231134
rs606231134 		0.925 0.120 6 152321898 intron variant T/C snv 3.2E-05 3.5E-05
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs746328978
rs746328978 		0.925 0.120 6 152308620 stop gained G/A;T snv 8.4E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs746438011
rs746438011 		0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs910956017
rs910956017 		0.925 0.120 6 152269178 stop gained G/A snv 4.0E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0