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: rs1248355799
rs1248355799
RYR1
1.000 19 38485770 frameshift variant ACTGCGCG/- del 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1973 2013
dbSNP: rs1248355799
rs1248355799
RYR1
1.000 19 38485770 frameshift variant ACTGCGCG/- del 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1973 2013
dbSNP: rs1555801872
rs1555801872
RYR1
19 38572152 inframe insertion -/ATGGTGTACTACTTC delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 12 1973 2013
dbSNP: rs1555801872
rs1555801872
RYR1
19 38572152 inframe insertion -/ATGGTGTACTACTTC delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: 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: rs1555762532
rs1555762532
RYR1
19 38442362 missense variant A/G snv
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.700 1.000 1 2017 2017
dbSNP: rs1057518773
rs1057518773
RYR1
19 38505868 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		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: rs139161723
rs139161723
RYR1
1.000 19 38440830 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1568537774
rs1568537774
RYR1 ; LOC107985290
1.000 19 38525371 frameshift variant -/G delins
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs370634440
rs370634440
RYR1
19 38463499 missense variant G/A;T snv 1.7E-04; 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045931
rs797045931
RYR1
19 38457580 frameshift variant TGGCC/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045932
rs797045932
RYR1
19 38460515 frameshift variant G/- delins 2.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045933
rs797045933
RYR1
19 38467665 inframe insertion -/TCCTAT delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045934
rs797045934
RYR1
19 38467813 splice donor variant G/A;T snv 4.0E-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: 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
dbSNP: rs146876145
rs146876145
RYR1
0.925 0.040 19 38586140 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.700 1.000 6 2002 2015
dbSNP: rs146876145
rs146876145
RYR1
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 		0.800 1.000 3 1991 2017
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