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: rs118192121
rs118192121 		1.000 0.080 19 38496910 missense variant A/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192141
rs118192141 		1.000 0.080 19 38575959 missense variant A/C snv 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
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: 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: rs193922752
rs193922752 		1.000 0.080 19 38444203 missense variant A/C;G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: 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: 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: rs147136339
rs147136339 		0.925 0.120 19 38543551 missense variant A/G snv 8.7E-04 1.1E-03
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2012 2012
dbSNP: rs118192144
rs118192144 		1.000 0.080 19 38580430 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192167
rs118192167 		0.925 0.120 19 38580004 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 0 2003 2004
dbSNP: rs118192184
rs118192184 		1.000 0.080 19 38585036 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs1568604308
rs1568604308 		1.000 0.080 19 38580028 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886039586
rs886039586 		1.000 0.080 19 38580033 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192126
rs118192126 		1.000 0.080 19 38519295 missense variant A/G;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555806119
rs1555806119 		1.000 0.080 19 38587350 frameshift variant AA/- del
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192129
rs118192129 		1.000 0.080 19 38565320 missense variant C/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192155
rs118192155 		1.000 0.080 19 38585055 missense variant C/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568510406
rs1568510406 		1.000 0.080 19 38504839 stop gained C/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs377178986
rs377178986 		0.851 0.160 19 38543420 stop gained C/A snv 2.4E-05 3.5E-05
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192180
rs118192180 		1.000 0.080 19 38580090 missense variant C/A;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: rs978984063
rs978984063 		1.000 0.080 19 38516165 missense variant C/A;T snv 1.8E-05
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs193922837
rs193922837 		0.851 0.160 19 38523211 splice region variant C/G snv 2.0E-05 9.8E-05
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: 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