Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs193922886
rs193922886
RYR1
1.000 0.160 19 38583494 intron variant A/G snv 7.4E-06
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.700 0
dbSNP: rs200563280
rs200563280
RYR1
0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 4 2010 2014
dbSNP: rs200563280
rs200563280
RYR1
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) 		0.700 1.000 4 2010 2014
dbSNP: rs1278804520
rs1278804520
RYR1
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) 		0.700 1.000 3 2006 2013
dbSNP: rs200563280
rs200563280
RYR1
0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.700 1.000 3 2010 2016
dbSNP: rs1057518773
rs1057518773
RYR1
19 38505868 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1332371891
rs1332371891
RYR1
1.000 0.080 19 38483419 stop gained C/T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs143849895
rs143849895
RYR1
1.000 0.080 19 38566953 stop gained G/A;C;T snv 3.4E-05
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs1456276440
rs1456276440
RYR1
1.000 0.080 19 38442391 stop gained C/T snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs1568510406
rs1568510406
RYR1
1.000 0.080 19 38504839 stop gained C/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs200563280
rs200563280
RYR1
0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 0
dbSNP: rs367543054
rs367543054
RYR1
1.000 0.080 19 38446706 stop gained T/G snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs367543055
rs367543055
RYR1
1.000 0.080 19 38485988 stop gained C/A;T snv 4.1E-06
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs377178986
rs377178986
RYR1
0.851 0.160 19 38543420 stop gained C/A snv 2.4E-05 3.5E-05
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.700 0
dbSNP: rs377178986
rs377178986
RYR1
0.851 0.160 19 38543420 stop gained C/A snv 2.4E-05 3.5E-05
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs377178986
rs377178986
RYR1
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) 		0.700 0
dbSNP: rs377178986
rs377178986
RYR1
0.851 0.160 19 38543420 stop gained C/A snv 2.4E-05 3.5E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 0
dbSNP: rs758247804
rs758247804
RYR1 ; LOC107985290
1.000 0.080 19 38525496 stop gained C/G;T snv 2.0E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.700 0
dbSNP: rs774919231
rs774919231
RYR1
1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.700 0
dbSNP: rs774919231
rs774919231
RYR1
1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.700 0
dbSNP: rs774919231
rs774919231
RYR1
1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045935
rs797045935
RYR1
19 38506860 stop gained C/A;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs756138074
rs756138074
RYR1
1.000 19 38467793 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1973 2013
dbSNP: rs756138074
rs756138074
RYR1
1.000 19 38467793 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1973 2013
dbSNP: rs193922764
rs193922764
RYR1
0.925 0.040 19 38451842 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.700 1.000 9 2002 2015