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rs118192139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192139(A;C)
Make rs118192139(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position38572224
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192139
ebirs118192139
HLIrs118192139
Exacrs118192139
Varsomers118192139
Maprs118192139
PheGenIrs118192139
hapmaprs118192139
1000 genomesrs118192139
hgdprs118192139
ensemblrs118192139
gopubmedrs118192139
geneviewrs118192139
scholarrs118192139
googlers118192139
pharmgkbrs118192139
gwascentralrs118192139
openSNPrs118192139
23andMers118192139
23andMe allrs118192139
SNP Nexus

SNPshotrs118192139
SNPdbers118192139
MSV3drs118192139
GWAS Ctlgrs118192139
Max Magnitude0
ClinVar
Risk rs118192139(C;C)
Alt rs118192139(C;C)
Reference rs118192139(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.39062864A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056198.1, RCV000119494.1,