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rs118192129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192129(A;A)
Make rs118192129(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38565320
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192129
ebirs118192129
HLIrs118192129
Exacrs118192129
Varsomers118192129
Maprs118192129
PheGenIrs118192129
hapmaprs118192129
1000 genomesrs118192129
hgdprs118192129
ensemblrs118192129
gopubmedrs118192129
geneviewrs118192129
scholarrs118192129
googlers118192129
pharmgkbrs118192129
gwascentralrs118192129
openSNPrs118192129
23andMers118192129
23andMe allrs118192129
SNP Nexus

SNPshotrs118192129
SNPdbers118192129
MSV3drs118192129
GWAS Ctlgrs118192129
Max Magnitude0
ClinVar
Risk rs118192129(A;A)
Alt rs118192129(A;A)
Reference rs118192129(C;C)
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.39055960C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056171.1, RCV000119471.1,