SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
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: rs121909296
rs121909296 		1.000 0.200 5 156344574 stop gained G/A;C;T snv 4.0E-06
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1267810339
rs1267810339 		0.925 0.200 5 156344678 splice donor variant G/A snv 4.3E-06
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1267810339
rs1267810339 		0.925 0.200 5 156344678 splice donor variant G/A snv 4.3E-06
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554094947
rs1554094947 		1.000 0.200 5 156344556 frameshift variant -/TGGG delins
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554137109
rs1554137109 		0.925 0.200 5 156757620 frameshift variant A/- delins
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554137109
rs1554137109 		0.925 0.200 5 156757620 frameshift variant A/- delins
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554137130
rs1554137130 		0.925 0.200 5 156757705 splice donor variant G/T snv
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554137130
rs1554137130 		0.925 0.200 5 156757705 splice donor variant G/T snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267607045
rs267607045 		1.000 0.200 5 156594940 missense variant G/C snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397517921
rs397517921 		5 156594936 frameshift variant A/- delins
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 0
dbSNP: rs397517923
rs397517923 		0.925 0.200 5 156344554 stop gained C/A;T snv 1.2E-04 6.3E-05
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397517923
rs397517923 		0.925 0.200 5 156344554 stop gained C/A;T snv 1.2E-04 6.3E-05
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503422
rs727503422 		0.925 0.200 5 156508703 splice donor variant G/A snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727503422
rs727503422 		0.925 0.200 5 156508703 splice donor variant G/A snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 0
dbSNP: rs727503422
rs727503422 		0.925 0.200 5 156508703 splice donor variant G/A snv
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		Cardiovascular Diseases 0.700 0
dbSNP: rs121909297
rs121909297 		1.000 0.200 5 156759301 missense variant G/A snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 1998 1998
dbSNP: rs17053082
rs17053082 		1.000 0.080 5 155967220 intron variant C/T snv 5.6E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs10056066
rs10056066 		1.000 0.040 5 156434616 intron variant G/A snv 2.4E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1175344271
rs1175344271 		0.925 0.200 5 156757668 stop gained C/A snv
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1175344271
rs1175344271 		0.925 0.200 5 156757668 stop gained C/A snv
CUI: C1832525
Disease: Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs11960617
rs11960617 		5 156494033 intron variant C/T snv 1.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11960617
rs11960617 		5 156494033 intron variant C/T snv 1.9E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11960617
rs11960617 		5 156494033 intron variant C/T snv 1.9E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121909298
rs121909298 		0.925 0.040 5 156595000 missense variant T/G snv 2.0E-04 1.3E-04
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		Cardiovascular Diseases 0.700 1.000 1 2000 2000
dbSNP: rs138538719
rs138538719 		1.000 0.040 5 156578156 intron variant C/A snv 4.1E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017