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rs878854375

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854375(A;A)
Make rs878854375(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38453012
GeneRYR1
is asnp
is mentioned by
dbSNPrs878854375
ebirs878854375
HLIrs878854375
Exacrs878854375
Varsomers878854375
Maprs878854375
PheGenIrs878854375
hapmaprs878854375
1000 genomesrs878854375
hgdprs878854375
ensemblrs878854375
gopubmedrs878854375
geneviewrs878854375
scholarrs878854375
googlers878854375
pharmgkbrs878854375
gwascentralrs878854375
openSNPrs878854375
23andMers878854375
23andMe allrs878854375
SNP Nexus

SNPshotrs878854375
SNPdbers878854375
MSV3drs878854375
GWAS Ctlgrs878854375
Max Magnitude0
ClinVar
Risk rs878854375(A;A)
Alt rs878854375(A;A)
Reference rs878854375(G;G)
Significance Probable-Pathogenic
Disease Central core disease
Variation info
Gene RYR1
CLNDBN Central core disease
Reversed 0
HGVS NC_000019.9:g.38943652G>A
CLNSRC
CLNACC RCV000231682.1,