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

rs118192167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 3 susceptibility to malignant hyperthermia
Make rs118192167(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580004
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192167
ebirs118192167
HLIrs118192167
Exacrs118192167
Varsomers118192167
Maprs118192167
PheGenIrs118192167
hapmaprs118192167
1000 genomesrs118192167
hgdprs118192167
ensemblrs118192167
gopubmedrs118192167
geneviewrs118192167
scholarrs118192167
googlers118192167
pharmgkbrs118192167
gwascentralrs118192167
openSNPrs118192167
23andMers118192167
23andMe allrs118192167
SNP Nexus

SNPshotrs118192167
SNPdbers118192167
MSV3drs118192167
GWAS Ctlgrs118192167
Max Magnitude3
OMIM180901
Desc
Variant0016
Relatedalso
ClinVar
Risk rs118192167(G;G)
Alt rs118192167(G;G)
Reference rs118192167(A;A)
Significance Other
Disease Central core disease Malignant hyperthermia not provided
Variation info
Gene RYR1
CLNDBN Central core disease Malignant hyperthermia, susceptibility to, 1 not provided
Reversed 0
HGVS NC_000019.9:g.39070644A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013848.18, RCV000013849.2, RCV000119509.1,


[PMID 11063719] An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.


[PMID 17204937] Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.