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rs118192178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192178(C;T)
Make rs118192178(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38500898
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192178
ebirs118192178
HLIrs118192178
Exacrs118192178
Varsomers118192178
Maprs118192178
PheGenIrs118192178
hapmaprs118192178
1000 genomesrs118192178
hgdprs118192178
ensemblrs118192178
gopubmedrs118192178
geneviewrs118192178
scholarrs118192178
googlers118192178
pharmgkbrs118192178
gwascentralrs118192178
openSNPrs118192178
23andMers118192178
23andMe allrs118192178
SNP Nexus

SNPshotrs118192178
SNPdbers118192178
MSV3drs118192178
GWAS Ctlgrs118192178
Max Magnitude0
ClinVar
Risk rs118192178(G,T;G,T)
Alt rs118192178(G,T;G,T)
Reference rs118192178(C;C)
Significance Pathogenic
Disease not provided Central core disease Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN not provided Central core disease Malignant hyperthermia, susceptibility to, 1
Reversed 0
HGVS NC_000019.9:g.38991538C>G; NC_000019.9:g.38991538C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000119717.1, RCV000056228.1, RCV000119718.1, RCV000178618.1,


OMIM117000
Desc
Variant
Relatedalso

[PMID 12565913] Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.


[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.


[PMID 16732084] Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.


[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.