RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
Disease: Malignant hyperthermia susceptibility type 1 ×
Source: CLINVAR ×
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: rs146876145
rs146876145 		0.925 0.040 19 38586140 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.800 1.000 3 1991 2017
dbSNP: rs118192177
rs118192177 		0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.800 0
dbSNP: rs763112609
rs763112609 		1.000 0.040 19 38534774 missense variant C/G;T snv 4.0E-06; 1.2E-05 2.1E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.800 1.000 0 1991 2017
dbSNP: rs111436401
rs111436401 		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 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs118192140
rs118192140 		0.851 0.160 19 38573304 missense variant C/T snv 4.4E-05 4.2E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1568507354
rs1568507354 		0.827 0.200 19 38502879 splice acceptor variant G/A snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs193922781
rs193922781 		0.925 0.040 19 38485838 missense variant C/T snv 4.1E-06 1.4E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 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: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs193922842
rs193922842 		1.000 0.040 19 38543821 missense variant C/G;T snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs200563280
rs200563280 		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 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs377178986
rs377178986 		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 		Pathological Conditions, Signs and Symptoms 0.700 0