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: rs1057518773
rs1057518773
RYR1
19 38505868 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518885
rs1057518885
RYR1
1.000 0.040 19 38561362 missense variant G/A snv 8.0E-06
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.700 0
dbSNP: rs1057518940
rs1057518940
RYR1
0.925 0.040 19 38499718 missense variant G/A snv
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		0.700 0
dbSNP: rs1057518940
rs1057518940
RYR1
0.925 0.040 19 38499718 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs1057518940
rs1057518940
RYR1
0.925 0.040 19 38499718 missense variant G/A snv
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		0.700 0
dbSNP: rs1057518940
rs1057518940
RYR1
0.925 0.040 19 38499718 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518970
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.700 0
dbSNP: rs1057518970
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518970
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.700 0
dbSNP: rs111364670
rs111364670
RYR1
1.000 0.080 19 38510566 splice donor variant G/A;T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs111436401
rs111436401
RYR1
0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.700 0
dbSNP: rs111436401
rs111436401
RYR1
0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 0
dbSNP: rs111436401
rs111436401
RYR1
0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs111436401
rs111436401
RYR1
0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs113460156
rs113460156
RYR1
19 38473772 splice donor variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs118192115
rs118192115
RYR1
1.000 0.080 19 38446484 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192117
rs118192117
RYR1
0.882 0.160 19 38451846 missense variant T/C snv 4.0E-06
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 0
dbSNP: rs118192117
rs118192117
RYR1
0.882 0.160 19 38451846 missense variant T/C snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs118192118
rs118192118
RYR1
1.000 0.080 19 38452854 missense variant C/T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs118192119
rs118192119
RYR1
1.000 0.080 19 38455328 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs118192121
rs118192121
RYR1
1.000 0.080 19 38496910 missense variant A/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs118192123
rs118192123
RYR1
0.925 0.120 19 38500640 missense variant T/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.710 1.000 0 2003 2003
dbSNP: rs118192125
rs118192125
RYR1
1.000 0.080 19 38506952 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs118192126
rs118192126
RYR1
1.000 0.080 19 38519295 missense variant A/G;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs118192127
rs118192127
RYR1 ; LOC107985290
1.000 0.080 19 38527777 splice acceptor variant T/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0