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rs118192166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 can be associated with central core disease
Make rs118192166(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38572181
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192166
ebirs118192166
HLIrs118192166
Exacrs118192166
Varsomers118192166
Maprs118192166
PheGenIrs118192166
hapmaprs118192166
1000 genomesrs118192166
hgdprs118192166
ensemblrs118192166
gopubmedrs118192166
geneviewrs118192166
scholarrs118192166
googlers118192166
pharmgkbrs118192166
gwascentralrs118192166
openSNPrs118192166
23andMers118192166
23andMe allrs118192166
SNP Nexus

SNPshotrs118192166
SNPdbers118192166
MSV3drs118192166
GWAS Ctlgrs118192166
Max Magnitude3
OMIM180901
Desc
Variant0030
Relatedalso
ClinVar
Risk rs118192166(G;G)
Alt rs118192166(G;G)
Reference rs118192166(A;A)
Significance Pathogenic
Disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.39062821A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013864.17, RCV000119487.1,


[PMID 11113224] A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.