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rs193922879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922879(A;A)
Make rs193922879(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580382
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922879
ebirs193922879
HLIrs193922879
Exacrs193922879
Varsomers193922879
Maprs193922879
PheGenIrs193922879
hapmaprs193922879
1000 genomesrs193922879
hgdprs193922879
ensemblrs193922879
gopubmedrs193922879
geneviewrs193922879
scholarrs193922879
googlers193922879
pharmgkbrs193922879
gwascentralrs193922879
openSNPrs193922879
23andMers193922879
23andMe allrs193922879
SNP Nexus

SNPshotrs193922879
SNPdbers193922879
MSV3drs193922879
GWAS Ctlgrs193922879
Max Magnitude0
ClinVar
Risk rs193922879(A;A)
Alt rs193922879(A;A)
Reference rs193922879(G;G)
Significance Pathogenic
Disease Minicore myopathy with external ophthalmoplegia not provided Myopathy Central core disease
Variation info
Gene RYR1
CLNDBN Minicore myopathy with external ophthalmoplegia not provided Myopathy, congenital with cores Central core disease
Reversed 0
HGVS NC_000019.9:g.39071022G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022758.23, RCV000119524.2, RCV000148830.1, RCV000226744.1,


[PMID 18253926] Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.