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

rs148772854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148772854(C;T)
Make rs148772854(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38543804
GeneRYR1
is asnp
is mentioned by
dbSNPrs148772854
ebirs148772854
HLIrs148772854
Exacrs148772854
Varsomers148772854
Maprs148772854
PheGenIrs148772854
hapmaprs148772854
1000 genomesrs148772854
hgdprs148772854
ensemblrs148772854
gopubmedrs148772854
geneviewrs148772854
scholarrs148772854
googlers148772854
pharmgkbrs148772854
gwascentralrs148772854
openSNPrs148772854
23andMers148772854
23andMe allrs148772854
SNP Nexus

SNPshotrs148772854
SNPdbers148772854
MSV3drs148772854
GWAS Ctlgrs148772854
Max Magnitude0
ClinVar
Risk rs148772854(T;T)
Alt rs148772854(T;T)
Reference rs148772854(C;C)
Significance Other
Disease Minicore myopathy with external ophthalmoplegia not specified
Variation info
Gene RYR1
CLNDBN Minicore myopathy with external ophthalmoplegia not specified
Reversed 0
HGVS NC_000019.9:g.39034444C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000022759.24, RCV000079122.6,