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rs118192123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192123(C;C)
Make rs118192123(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38500640
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192123
ebirs118192123
HLIrs118192123
Exacrs118192123
Varsomers118192123
Maprs118192123
PheGenIrs118192123
hapmaprs118192123
1000 genomesrs118192123
hgdprs118192123
ensemblrs118192123
gopubmedrs118192123
geneviewrs118192123
scholarrs118192123
googlers118192123
pharmgkbrs118192123
gwascentralrs118192123
openSNPrs118192123
23andMers118192123
23andMe allrs118192123
SNP Nexus

SNPshotrs118192123
SNPdbers118192123
MSV3drs118192123
GWAS Ctlgrs118192123
Max Magnitude0
ClinVar
Risk rs118192123(C;C)
Alt rs118192123(C;C)
Reference rs118192123(T;T)
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.38991280T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056200.1, RCV000119708.1,