ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Disease: Actin-Accumulation Myopathy ×
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: rs1025502215
rs1025502215 		1.000 0.080 1 229433080 stop gained G/A;T snv 4.0E-06 7.0E-06
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519311
rs1057519311 		1.000 0.080 1 229432365 missense variant G/A;C snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057521117
rs1057521117 		1.000 0.080 1 229432063 missense variant C/G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057521119
rs1057521119 		1.000 0.080 1 229432270 missense variant C/T snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs111812550
rs111812550 		1.000 0.080 1 229432269 splice donor variant C/G;T snv 1.4E-05
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1301902450
rs1301902450 		1.000 0.080 1 229431904 splice acceptor variant T/A snv 4.1E-06
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1435160117
rs1435160117 		1.000 0.080 1 229432591 missense variant G/A;C snv 7.0E-06
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553255301
rs1553255301 		1.000 0.080 1 229431579 missense variant A/G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553255446
rs1553255446 		1.000 0.080 1 229432425 missense variant A/G snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553255486
rs1553255486 		1.000 0.080 1 229432608 missense variant C/T snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1558081624
rs1558081624 		1.000 0.080 1 229432036 missense variant G/A snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1558081804
rs1558081804 		1.000 0.080 1 229432357 missense variant T/C snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201823652
rs201823652 		1.000 0.080 1 229432142 stop gained G/A;T snv 1.6E-05; 1.2E-05
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs372686280
rs372686280 		1.000 0.080 1 229431720 splice donor variant C/A;T snv 1.2E-05 1.4E-05
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123563
rs398123563 		1.000 0.080 1 229432568 missense variant C/G;T snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs753923758
rs753923758 		1.000 0.080 1 229433031 frameshift variant -/A ins 1.6E-05
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs794727714
rs794727714 		1.000 0.080 1 229432117 missense variant T/C snv
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: 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: 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