DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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: rs1048379601
rs1048379601 		X 31773986 missense variant T/C snv 1.9E-05
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1048379601
rs1048379601 		X 31773986 missense variant T/C snv 1.9E-05
CUI: C0231528
Disease: Myalgia
Myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs104894790
rs104894790 		0.925 0.160 X 31178751 stop gained G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1201177282
rs1201177282 		X 31172390 missense variant T/C snv 5.5E-06 9.4E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1213308971
rs1213308971 		X 31348599 missense variant T/A snv 5.5E-06
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2006 2006
dbSNP: rs1261007995
rs1261007995 		1.000 0.080 X 31507391 synonymous variant T/C snv 5.5E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1335534133
rs1335534133 		1.000 0.080 X 32485069 missense variant G/A snv 9.5E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1391274976
rs1391274976 		1.000 0.080 X 31774029 synonymous variant T/C snv 9.7E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1420714074
rs1420714074 		1.000 0.040 X 32491437 missense variant T/C snv 1.1E-05
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1427938321
rs1427938321 		X 32365095 missense variant T/A snv 5.5E-06
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2006 2006
dbSNP: rs1462311598
rs1462311598 		1.000 0.040 X 32390180 missense variant T/C snv 5.5E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1489694587
rs1489694587 		0.882 0.120 X 31172385 missense variant A/C snv
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs1489694587
rs1489694587 		0.882 0.120 X 31172385 missense variant A/C snv
CUI: C1368019
Disease: Paget Disease
Paget Disease 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs1489694587
rs1489694587 		0.882 0.120 X 31172385 missense variant A/C snv
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1800264
rs1800264 		0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800264
rs1800264 		0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800264
rs1800264 		0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800264
rs1800264 		0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800264
rs1800264 		0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs186628781
rs186628781 		1.000 0.080 X 32472271 missense variant T/C;G snv 1.1E-04
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs200928985
rs200928985 		1.000 0.080 X 31223056 missense variant C/A;T snv 4.4E-05; 1.1E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs201718067
rs201718067 		1.000 0.080 X 31223083 missense variant C/A snv 7.6E-05 6.6E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs374838013
rs374838013 		1.000 0.080 X 32365046 missense variant C/T snv
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs748838045
rs748838045 		1.000 0.080 X 31178676 missense variant T/C snv 5.5E-06
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs749687470
rs749687470 		1.000 0.120 X 31478264 missense variant T/C snv 5.5E-06
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999