Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922886(A;G)
Make rs193922886(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38583494
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922886
ebirs193922886
HLIrs193922886
Exacrs193922886
Varsomers193922886
Maprs193922886
PheGenIrs193922886
hapmaprs193922886
1000 genomesrs193922886
hgdprs193922886
ensemblrs193922886
gopubmedrs193922886
geneviewrs193922886
scholarrs193922886
googlers193922886
pharmgkbrs193922886
gwascentralrs193922886
openSNPrs193922886
23andMers193922886
23andMe allrs193922886
SNP Nexus

SNPshotrs193922886
SNPdbers193922886
MSV3drs193922886
GWAS Ctlgrs193922886
Max Magnitude0
ClinVar
Risk rs193922886(G;G)
Alt rs193922886(G;G)
Reference rs193922886(A;A)
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.39074134A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013859.23, RCV000119539.1,


[PMID 12719381] A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.