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: rs398124099
rs398124099 		1.000 0.120 X 32650983 intron variant G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2004 2010
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: rs5927969
rs5927969 		1.000 0.080 X 32331318 intron variant T/A;G snv
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
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: rs7887541
rs7887541 		1.000 0.080 X 32053387 intron variant T/C snv 0.29
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1556980528
rs1556980528 		X 32738791 intron variant T/C snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs182575709
rs182575709 		0.925 0.120 X 32461403 intron variant T/C;G snv 5.7E-03
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs182575709
rs182575709 		0.925 0.120 X 32461403 intron variant T/C;G snv 5.7E-03
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs72470513
rs72470513 		1.000 0.120 X 32698013 intron variant T/C snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045526
rs797045526 		1.000 0.040 X 31965029 intron variant C/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs128626250
rs128626250 		1.000 0.040 X 32217062 stop gained G/A;C snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 11 1994 2015
dbSNP: rs104894797
rs104894797 		1.000 0.040 X 31206663 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 1998 2010
dbSNP: rs398123832
rs398123832 		0.882 0.160 X 31178721 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 1996 2017
dbSNP: rs104894787
rs104894787 		0.882 0.160 X 31178784 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 1992 2015
dbSNP: rs104894790
rs104894790 		0.925 0.160 X 31178751 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 1993 2009
dbSNP: rs863225011
rs863225011 		1.000 0.040 X 31627852 stop gained G/A;C snv 5.7E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 2004 2015
dbSNP: rs398123942
rs398123942 		1.000 0.120 X 32454685 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 0.700 1.000 7 2008 2018
dbSNP: rs128627256
rs128627256 		0.882 0.160 X 31478330 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 1995 2015
dbSNP: rs398122853
rs398122853 		0.882 0.160 X 33211304 stop gained C/T snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 2003 2017
dbSNP: rs398123953
rs398123953 		1.000 0.040 X 32389644 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 1995 2017
dbSNP: rs398123973
rs398123973 		0.925 0.160 X 32365049 stop gained G/A;T snv 5.5E-06
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 6 2001 2011
dbSNP: rs1556503937
rs1556503937 		1.000 0.120 X 31323639 stop gained C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 1999 2017
dbSNP: rs398123981
rs398123981 		1.000 0.040 X 32362826 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2006 2013
dbSNP: rs398123999
rs398123999 		1.000 0.040 X 32809559 stop gained G/A snv
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 5 2001 2011