RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Disease: Central Core Myopathy (disorder) ×
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: 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: 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: 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: 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
dbSNP: rs118192139
rs118192139 		1.000 0.080 19 38572224 missense variant A/C;G 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: rs118192142
rs118192142 		1.000 0.080 19 38580057 missense variant C/T 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: rs118192143
rs118192143 		1.000 0.080 19 38580395 missense variant C/G;T snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2012 2012
dbSNP: rs118192146
rs118192146 		1.000 0.080 19 38580449 missense variant A/G 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: rs118192148
rs118192148 		1.000 0.080 19 38584986 missense variant G/A;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 2 2012 2013
dbSNP: rs118192150
rs118192150 		1.000 0.080 19 38584973 missense variant C/G;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.820 1.000 2 2004 2013
dbSNP: rs118192151
rs118192151 		1.000 0.080 19 38584974 missense variant G/A;C 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: rs118192153
rs118192153 		0.925 0.120 19 38585013 missense variant C/G;T snv 1.2E-05; 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2012 2012
dbSNP: rs118192154
rs118192154 		1.000 0.080 19 38585037 missense variant G/C 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: rs118192159
rs118192159 		1.000 0.080 19 38585948 missense variant C/G;T snv 9.9E-05
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2012 2012
dbSNP: rs118192162
rs118192162 		0.851 0.120 19 38455359 missense variant A/C;G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 2 2003 2012
dbSNP: rs118192166
rs118192166 		1.000 0.080 19 38572181 missense variant A/G 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: rs118192179
rs118192179 		1.000 0.080 19 38579995 missense variant T/C;G snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2012 2012