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rs387906681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs387906681(-;-)
Make rs387906681(-;AG)
ReferenceGRCh38 38.1/141
Chromosome19
Position38489355
GeneRYR1
is asnp
is mentioned by
dbSNPrs387906681
ebirs387906681
HLIrs387906681
Exacrs387906681
Varsomers387906681
Maprs387906681
PheGenIrs387906681
hapmaprs387906681
1000 genomesrs387906681
hgdprs387906681
ensemblrs387906681
gopubmedrs387906681
geneviewrs387906681
scholarrs387906681
googlers387906681
pharmgkbrs387906681
gwascentralrs387906681
openSNPrs387906681
23andMers387906681
23andMe allrs387906681
SNP Nexus

SNPshotrs387906681
SNPdbers387906681
MSV3drs387906681
GWAS Ctlgrs387906681
Max Magnitude0
ClinVar
Risk rs387906681(;)
Alt rs387906681(;)
Reference rs387906681(AG;AG)
Significance Pathogenic
Disease Minicore myopathy with external ophthalmoplegia
Variation info
Gene RYR1
CLNDBN Minicore myopathy with external ophthalmoplegia
Reversed 0
HGVS NC_000019.9:g.38979995_38979996delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022757.1,