ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
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: rs1553255521
rs1553255521 		1.000 0.080 1 229433007 missense variant C/A snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 16 1999 2015
dbSNP: rs121909523
rs121909523 		1.000 0.080 1 229432020 missense variant T/A snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 1999 2015
dbSNP: rs121909519
rs121909519 		1.000 0.080 1 229432723 missense variant A/G snv 1.4E-05
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs121909520
rs121909520 		0.925 0.080 1 229432660 missense variant T/C snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs121909522
rs121909522 		0.925 0.080 1 229432393 missense variant C/A;G;T snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs121909524
rs121909524 		1.000 0.080 1 229431558 missense variant T/G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs121909525
rs121909525 		1.000 0.080 1 229431994 missense variant C/A;G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs121909526
rs121909526 		1.000 0.080 1 229432596 missense variant G/C snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs1553255360
rs1553255360 		1.000 0.080 1 229431899 missense variant A/C snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs1553255502
rs1553255502 		1.000 0.080 1 229432813 missense variant A/T snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs398122936
rs398122936 		1.000 0.080 1 229431727 missense variant C/G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs398123562
rs398123562 		1.000 0.080 1 229432877 missense variant C/A;T snv 4.0E-06
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs587777354
rs587777354 		1.000 0.080 1 229431559 missense variant C/A snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 1999 2015
dbSNP: rs121909529
rs121909529 		1.000 0.080 1 229431830 missense variant T/A snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2004 2007
dbSNP: rs121909530
rs121909530 		1.000 0.080 1 229432134 missense variant A/G snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2004 2007
dbSNP: rs121909531
rs121909531 		1.000 0.080 1 229431633 missense variant G/A snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2004 2007
dbSNP: rs1064794287
rs1064794287 		1.000 0.080 1 229432333 missense variant G/A;T snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs869312739
rs869312739 		1.000 1 229432295 missense variant C/A snv
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL 		0.800 1.000 1 2015 2015
dbSNP: rs1057521118
rs1057521118 		1.000 0.080 1 229432126 missense variant C/G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 14 1999 2015
dbSNP: rs1553255482
rs1553255482 		1.000 0.080 1 229432585 missense variant A/G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 14 1999 2015
dbSNP: rs121909527
rs121909527 		0.925 0.080 1 229433109 missense variant C/A snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 13 1999 2015
dbSNP: rs121909528
rs121909528 		0.925 0.080 1 229431626 missense variant T/C;G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 13 1999 2015
dbSNP: rs367543051
rs367543051 		0.925 0.080 1 229432075 missense variant C/T snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 13 1999 2015
dbSNP: rs1553255354
rs1553255354 		1.000 1 229431843 missense variant C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2001 2015
dbSNP: rs1553255354
rs1553255354 		1.000 1 229431843 missense variant C/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 2001 2015