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rs193922836

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922836(C;T)
Make rs193922836(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38523111
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922836
ebirs193922836
HLIrs193922836
Exacrs193922836
Varsomers193922836
Maprs193922836
PheGenIrs193922836
hapmaprs193922836
1000 genomesrs193922836
hgdprs193922836
ensemblrs193922836
gopubmedrs193922836
geneviewrs193922836
scholarrs193922836
googlers193922836
pharmgkbrs193922836
gwascentralrs193922836
openSNPrs193922836
23andMers193922836
23andMe allrs193922836
SNP Nexus

SNPshotrs193922836
SNPdbers193922836
MSV3drs193922836
GWAS Ctlgrs193922836
Max Magnitude0
ClinVar
Risk rs193922836(T;T)
Alt rs193922836(T;T)
Reference rs193922836(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.39013751C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013863.24, RCV000119408.1,


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