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rs118192174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192174(A;A)
Make rs118192174(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38499961
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192174
ebirs118192174
HLIrs118192174
Exacrs118192174
Varsomers118192174
Maprs118192174
PheGenIrs118192174
hapmaprs118192174
1000 genomesrs118192174
hgdprs118192174
ensemblrs118192174
gopubmedrs118192174
geneviewrs118192174
scholarrs118192174
googlers118192174
pharmgkbrs118192174
gwascentralrs118192174
openSNPrs118192174
23andMers118192174
23andMe allrs118192174
SNP Nexus

SNPshotrs118192174
SNPdbers118192174
MSV3drs118192174
GWAS Ctlgrs118192174
Max Magnitude0
OMIM180901
Desc
Variant0027
Relatedalso
ClinVar
Risk rs118192174(A;A)
Alt rs118192174(A;A)
Reference rs118192174(T;T)
Significance Pathogenic
Disease Minicore myopathy with external ophthalmoplegia not provided
Variation info
Gene RYR1
CLNDBN Minicore myopathy with external ophthalmoplegia not provided
Reversed 0
HGVS NC_000019.9:g.38990601T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013861.24, RCV000119694.1,


[PMID 7299413] Familial multicore disease with focal loss of cross-striations and ophthalmoplegia.


[PMID 16380615] Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.


[PMID 18253OA-icon.png] Studies of the actions of drugs affecting the central nervous system and of the relationship between nerve terminal ATPase activities and neurotransmitter release [proceedings].


[PMID 17033962OA-icon.png] Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.


[PMID 17365175] Functional effects of mutations identified in patients with multiminicore disease.


[PMID 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.