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rs28933397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 susceptibility to malignant hyperthermia
Make rs28933397(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38500654
GeneRYR1
is asnp
is mentioned by
dbSNPrs28933397
ebirs28933397
HLIrs28933397
Exacrs28933397
Varsomers28933397
Maprs28933397
PheGenIrs28933397
hapmaprs28933397
1000 genomesrs28933397
hgdprs28933397
ensemblrs28933397
gopubmedrs28933397
geneviewrs28933397
scholarrs28933397
googlers28933397
pharmgkbrs28933397
gwascentralrs28933397
openSNPrs28933397
23andMers28933397
23andMe allrs28933397
SNP Nexus

SNPshotrs28933397
SNPdbers28933397
MSV3drs28933397
GWAS Ctlgrs28933397
Max Magnitude3
OMIM180901
DescMALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
Variant0008
Relatedalso
Neighborrs28933396
Distance657



ClinVar
Risk rs28933397(T;T)
Alt rs28933397(T;T)
Reference rs28933397(C;C)
Significance Other
Disease Malignant hyperthermia not provided
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 not provided
Reversed 0
HGVS NC_000019.9:g.38991294C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013838.2, RCV000119711.1,



[PMID 16835904] Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.


[PMID 16958617OA-icon.png] Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area.