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rs193922837

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922837(C;G)
Make rs193922837(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38523211
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922837
ebirs193922837
HLIrs193922837
Exacrs193922837
Varsomers193922837
Maprs193922837
PheGenIrs193922837
hapmaprs193922837
1000 genomesrs193922837
hgdprs193922837
ensemblrs193922837
gopubmedrs193922837
geneviewrs193922837
scholarrs193922837
googlers193922837
pharmgkbrs193922837
gwascentralrs193922837
openSNPrs193922837
23andMers193922837
23andMe allrs193922837
SNP Nexus

SNPshotrs193922837
SNPdbers193922837
MSV3drs193922837
GWAS Ctlgrs193922837
Max Magnitude0
ClinVar
Risk rs193922837(G;G)
Alt rs193922837(G;G)
Reference rs193922837(C;C)
Significance Untested
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.39013851C>G
CLNSRC ClinVar
CLNACC RCV000119410.1,


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