DES, desmin, 1674

N. diseases: 330; N. variants: 63
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: rs1114167332
rs1114167332 		1.000 0.040 2 219418955 protein altering variant CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT delins
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553603239
rs1553603239 		1.000 0.160 2 219418792 inframe deletion GCAGGAGCT/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs58687088
rs58687088 		1.000 0.160 2 219421410 inframe deletion ACA/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs60538473
rs60538473 		0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs60538473
rs60538473 		0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057523274
rs1057523274 		1.000 0.160 2 219418463 start lost A/G snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267607483
rs267607483 		1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 7 2000 2013
dbSNP: rs267607483
rs267607483 		1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 7 2000 2013
dbSNP: rs730880289
rs730880289 		1.000 0.160 2 219420158 splice region variant AG/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1998 1998
dbSNP: rs398122940
rs398122940 		1.000 0.160 2 219425661 splice acceptor variant A/G snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727504448
rs727504448 		2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 5 2000 2012
dbSNP: rs727504448
rs727504448 		2 219420116 frameshift variant G/- del 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 5 2000 2012
dbSNP: rs1114167327
rs1114167327 		1.000 0.040 2 219425706 frameshift variant ACGG/- delins
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		Eye Diseases 0.700 0
dbSNP: rs1553603732
rs1553603732 		1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886043080
rs886043080 		1.000 0.160 2 219421529 frameshift variant T/- del
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397516698
rs397516698 		1.000 0.160 2 219420347 splice donor variant G/A;C;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 3 2000 2013