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

rs118192140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192140(C;T)
Make rs118192140(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38573304
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192140
ebirs118192140
HLIrs118192140
Exacrs118192140
Varsomers118192140
Maprs118192140
PheGenIrs118192140
hapmaprs118192140
1000 genomesrs118192140
hgdprs118192140
ensemblrs118192140
gopubmedrs118192140
geneviewrs118192140
scholarrs118192140
googlers118192140
pharmgkbrs118192140
gwascentralrs118192140
openSNPrs118192140
23andMers118192140
23andMe allrs118192140
SNP Nexus

SNPshotrs118192140
SNPdbers118192140
MSV3drs118192140
GWAS Ctlgrs118192140
Max Magnitude0
ClinVar
Risk rs118192140(T;T)
Alt rs118192140(T;T)
Reference rs118192140(C;C)
Significance Pathogenic
Disease Central core disease not provided Minicore myopathy with external ophthalmoplegia
Variation info
Gene RYR1
CLNDBN Central core disease not provided Minicore myopathy with external ophthalmoplegia
Reversed 0
HGVS NC_000019.9:g.39063944C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000056243.1, RCV000119498.1, RCV000191124.1,