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: 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: rs1554094927
rs1554094927 		1.000 0.200 5 156344488 splice acceptor variant G/A;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 1.000 4 1996 2008
dbSNP: rs121909295
rs121909295 		0.925 0.200 5 156595042 stop gained C/G;T snv 4.1E-06; 8.1E-06
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		Cardiovascular Diseases 0.700 1.000 2 1997 2009
dbSNP: rs121909295
rs121909295 		0.925 0.200 5 156595042 stop gained C/G;T snv 4.1E-06; 8.1E-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 1.000 2 1997 2009
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
dbSNP: rs17053011
rs17053011 		1.000 0.080 5 155934106 intron variant G/T snv 0.13
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2163746
rs2163746 		1.000 0.080 5 155918211 intron variant A/G snv 0.14
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs280471
rs280471 		5 156598496 intron variant C/T snv 0.11
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs32063
rs32063 		1.000 0.040 5 156638583 intron variant T/C snv 0.25
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs4454042
rs4454042 		5 156397764 intron variant T/C snv 0.74
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs456290
rs456290 		1.000 0.120 5 156728144 intron variant C/T snv 0.73
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs62380867
rs62380867 		1.000 0.040 5 156619236 intron variant A/G snv 4.3E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs62382696
rs62382696 		1.000 0.040 5 156466557 intron variant A/G snv 4.2E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs6877490
rs6877490 		1.000 0.040 5 156638636 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs958444
rs958444 		5 155978395 intron variant T/C snv 0.97
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2019 2019
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