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rs147012990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs147012990(C;C)
Make rs147012990(C;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position38512253
GeneRYR1
is asnp
is mentioned by
dbSNPrs147012990
ebirs147012990
HLIrs147012990
Exacrs147012990
Varsomers147012990
Maprs147012990
PheGenIrs147012990
hapmaprs147012990
1000 genomesrs147012990
hgdprs147012990
ensemblrs147012990
gopubmedrs147012990
geneviewrs147012990
scholarrs147012990
googlers147012990
pharmgkbrs147012990
gwascentralrs147012990
openSNPrs147012990
23andMers147012990
23andMe allrs147012990
SNP Nexus

SNPshotrs147012990
SNPdbers147012990
MSV3drs147012990
GWAS Ctlgrs147012990
Max Magnitude0
ClinVar
Risk rs147012990(C;C)
Alt rs147012990(C;C)
Reference rs147012990(T;T)
Significance Pathogenic
Disease Minicore myopathy with external ophthalmoplegia Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN Minicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1
Reversed 0
HGVS NC_000019.9:g.39002893T>C
CLNSRC ClinVar
CLNACC RCV000022757.1, RCV000210003.1,