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: 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: rs1379871
rs1379871 		X 31836665 intron variant G/A;C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
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: rs6631478
rs6631478 		X 32074263 intron variant T/C snv 0.26
CUI: C1328319
Disease: Ankle brachial pressure index (observable entity)
Ankle brachial pressure index (observable entity) 		0.700 1.000 1 2019 2019
dbSNP: rs73460075
rs73460075 		X 32265375 intron variant G/C snv 5.0E-02
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs757592525
rs757592525 		X 31478270 missense variant A/G snv 5.5E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs794729002
rs794729002 		X 31223109 missense variant T/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs876657777
rs876657777 		X 32644215 missense variant T/A snv
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		Wounds and Injuries 0.010 1.000 1 2006 2006
dbSNP: rs1057516028
rs1057516028 		X 32287680 stop gained G/A snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C4021526
Disease: Exercise-induced rhabdomyolysis
Exercise-induced rhabdomyolysis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518834
rs1057518834 		X 32849737 frameshift variant C/- delins
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518866
rs1057518866 		X 32343174 stop gained A/C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518962
rs1057518962 		X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0