RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Source: CURATED ×
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: rs200546266
rs200546266 		1.000 0.080 19 38477821 missense variant C/A;T snv 4.0E-06; 1.4E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020
dbSNP: rs587784379
rs587784379 		1.000 0.080 19 38516111 missense variant C/G snv 2.8E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020
dbSNP: rs749040743
rs749040743 		1.000 0.080 19 38467655 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs758247804
rs758247804 		1.000 0.080 19 38525496 stop gained C/G;T snv 2.0E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1568507354
rs1568507354 		0.827 0.200 19 38502879 splice acceptor variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs118192177
rs118192177 		0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs71356805
rs71356805 		19 38434439 intron variant G/C snv 1.8E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs118192164
rs118192164 		0.925 0.080 19 38525455 missense variant C/T snv
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs139161723
rs139161723 		1.000 19 38440830 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1568537774
rs1568537774 		1.000 19 38525371 frameshift variant -/G delins
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs137932199
rs137932199 		1.000 0.080 19 38519292 missense variant G/A;T snv 8.8E-04; 1.0E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs141646642
rs141646642 		1.000 0.080 19 38496278 missense variant C/G;T snv 4.1E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs193922748
rs193922748 		0.925 0.120 19 38440829 missense variant C/T snv 4.1E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs193922808
rs193922808 		1.000 0.080 19 38499954 missense variant G/A;C;T snv 3.2E-05; 4.0E-06; 3.2E-05
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs193922839
rs193922839 		0.925 0.120 19 38534775 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs193922869
rs193922869 		1.000 0.080 19 38577973 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs200950673
rs200950673 		1.000 0.080 19 38517386 missense variant A/G snv 2.6E-04 1.7E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs28933396
rs28933396 		0.882 0.120 19 38499997 missense variant G/A;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.740 1.000 20 1993 2017
dbSNP: rs371278145
rs371278145 		1.000 0.080 19 38466143 missense variant C/T snv 4.1E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs756870293
rs756870293 		1.000 0.080 19 38507783 missense variant T/C snv 8.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs118192130
rs118192130 		1.000 0.080 19 38570620 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2007 2015
dbSNP: rs200563280
rs200563280 		0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2014
dbSNP: rs1278804520
rs1278804520 		1.000 0.080 19 38448392 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2006 2013
dbSNP: rs118192115
rs118192115 		1.000 0.080 19 38446484 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2012 2012
dbSNP: rs118192135
rs118192135 		1.000 0.080 19 38572185 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2012 2012