Have questions? Visit https://www.reddit.com/r/SNPedia

rs772494345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs772494345(G;T)
Make rs772494345(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38561329
GeneRYR1
is asnp
is mentioned by
dbSNPrs772494345
dbSNP (classic)rs772494345
ClinGenrs772494345
ebirs772494345
HLIrs772494345
Exacrs772494345
Gnomadrs772494345
Varsomers772494345
LitVarrs772494345
Maprs772494345
PheGenIrs772494345
Biobankrs772494345
1000 genomesrs772494345
hgdprs772494345
ensemblrs772494345
geneviewrs772494345
scholarrs772494345
googlers772494345
pharmgkbrs772494345
gwascentralrs772494345
openSNPrs772494345
23andMers772494345
SNPshotrs772494345
SNPdbers772494345
MSV3drs772494345
GWAS Ctlgrs772494345
Max Magnitude0
ClinVar
Risk rs772494345(A;A) rs772494345(T;T)
Alt rs772494345(A;A) rs772494345(T;T)
Reference Rs772494345(G;G)
Significance Pathogenic
Disease Central core disease Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN Central core disease Malignant hyperthermia, susceptibility to, 1
Reversed 0
HGVS NC_000019.9:g.39051969G>T
CLNSRC
CLNACC RCV000180722.2, RCV000180723.2,