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rs193922771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193922771(-;-)
Make rs193922771(-;ATCA)
Make rs193922771(ATCA;ATCA)
ReferenceGRCh38 38.1/141
Chromosome19
Position38455702
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922771
ebirs193922771
HLIrs193922771
Exacrs193922771
Varsomers193922771
Maprs193922771
PheGenIrs193922771
hapmaprs193922771
1000 genomesrs193922771
hgdprs193922771
ensemblrs193922771
gopubmedrs193922771
geneviewrs193922771
scholarrs193922771
googlers193922771
pharmgkbrs193922771
gwascentralrs193922771
openSNPrs193922771
23andMers193922771
23andMe allrs193922771
SNP Nexus

SNPshotrs193922771
SNPdbers193922771
MSV3drs193922771
GWAS Ctlgrs193922771
Max Magnitude0
ClinVar
Risk rs193922771(AATC;AATC)
Alt rs193922771(AATC;AATC)
Reference rs193922771(;)
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.38946339_38946342dupATCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000013867.23, RCV000119584.1,


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