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: rs118192150
rs118192150
RYR1
1.000 0.080 19 38584973 missense variant C/G;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.820 1.000 0 2004 2013
dbSNP: rs118192148
rs118192148
RYR1
1.000 0.080 19 38584986 missense variant G/A;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.810 1.000 0 2012 2013
dbSNP: rs118192130
rs118192130
RYR1
1.000 0.080 19 38570620 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 3 2007 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: 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: rs118192135
rs118192135
RYR1
1.000 0.080 19 38572185 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192138
rs118192138
RYR1
1.000 0.080 19 38572221 missense variant T/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 0
dbSNP: rs118192139
rs118192139
RYR1
1.000 0.080 19 38572224 missense variant A/C;G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192141
rs118192141
RYR1
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) 		0.800 0
dbSNP: rs118192142
rs118192142
RYR1
1.000 0.080 19 38580057 missense variant C/T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192143
rs118192143
RYR1
1.000 0.080 19 38580395 missense variant C/G;T snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192146
rs118192146
RYR1
1.000 0.080 19 38580449 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192149
rs118192149
RYR1
1.000 0.080 19 38584967 missense variant G/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 0
dbSNP: rs118192151
rs118192151
RYR1
1.000 0.080 19 38584974 missense variant G/A;C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192153
rs118192153
RYR1
0.925 0.120 19 38585013 missense variant C/G;T snv 1.2E-05; 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192154
rs118192154
RYR1
1.000 0.080 19 38585037 missense variant G/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192158
rs118192158
RYR1
1.000 0.080 19 38585952 missense variant G/A snv 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192166
rs118192166
RYR1
1.000 0.080 19 38572181 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192173
rs118192173
RYR1
1.000 0.160 19 38443612 missense variant C/T snv 8.0E-05 5.6E-05
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192174
rs118192174
RYR1
0.882 0.200 19 38499961 missense variant T/A snv 2.0E-05 2.1E-05
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192177
rs118192177
RYR1
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 		0.800 0
dbSNP: rs118192178
rs118192178
RYR1
0.882 0.120 19 38500898 missense variant C/G;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 0
dbSNP: rs118192180
rs118192180
RYR1
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) 		0.800 1.000 0 2012 2012
dbSNP: rs118192181
rs118192181
RYR1
1.000 0.080 19 38580439 missense variant C/T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012
dbSNP: rs118192183
rs118192183
RYR1
1.000 0.080 19 38584992 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.800 1.000 0 2012 2012