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rs118192173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192173(C;T)
Make rs118192173(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38443612
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192173
ebirs118192173
HLIrs118192173
Exacrs118192173
Varsomers118192173
Maprs118192173
PheGenIrs118192173
hapmaprs118192173
1000 genomesrs118192173
hgdprs118192173
ensemblrs118192173
gopubmedrs118192173
geneviewrs118192173
scholarrs118192173
googlers118192173
pharmgkbrs118192173
gwascentralrs118192173
openSNPrs118192173
23andMers118192173
23andMe allrs118192173
SNP Nexus

SNPshotrs118192173
SNPdbers118192173
MSV3drs118192173
GWAS Ctlgrs118192173
Max Magnitude0
OMIM180901
Desc
Variant0026
Relatedalso
ClinVar
Risk rs118192173(T;T)
Alt rs118192173(T;T)
Reference rs118192173(C;C)
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.38934252C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013860.24, RCV000119608.2,


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


[PMID 16940OA-icon.png] Aminoglycoside antibiotics and renal function: changes in urinary gamma-glutamyltransferase excretion.


[PMID 16940308] Characterization of recessive RYR1 mutations in core myopathies.


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


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