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rs193922870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922870(A;T)
Make rs193922870(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position38579980
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922870
ebirs193922870
HLIrs193922870
Exacrs193922870
Varsomers193922870
Maprs193922870
PheGenIrs193922870
hapmaprs193922870
1000 genomesrs193922870
hgdprs193922870
ensemblrs193922870
gopubmedrs193922870
geneviewrs193922870
scholarrs193922870
googlers193922870
pharmgkbrs193922870
gwascentralrs193922870
openSNPrs193922870
23andMers193922870
23andMe allrs193922870
SNP Nexus

SNPshotrs193922870
SNPdbers193922870
MSV3drs193922870
GWAS Ctlgrs193922870
Max Magnitude0
ClinVar
Risk rs193922870(T;T)
Alt rs193922870(T;T)
Reference rs193922870(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.39070620A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013862.23, RCV000119507.1,


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