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rs193922893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTCATC;GTCATC) 0 common in clinvar
(TCGTCA;TCGTCA) 0 common in clinvar
Make rs193922893(-;-)
Make rs193922893(-;GTCATC)
ReferenceGRCh38 38.1/141
Chromosome19
Position38585075
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922893
ebirs193922893
HLIrs193922893
Exacrs193922893
Varsomers193922893
Maprs193922893
PheGenIrs193922893
hapmaprs193922893
1000 genomesrs193922893
hgdprs193922893
ensemblrs193922893
gopubmedrs193922893
geneviewrs193922893
scholarrs193922893
googlers193922893
pharmgkbrs193922893
gwascentralrs193922893
openSNPrs193922893
23andMers193922893
23andMe allrs193922893
SNP Nexus

SNPshotrs193922893
SNPdbers193922893
MSV3drs193922893
GWAS Ctlgrs193922893
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs193922893(TCGTCA;TCGTCA)
Significance Pathogenic
Disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.39075715_39075720delGTCATC
CLNSRC ClinVar GeneReviews
CLNACC RCV000056248.1, RCV000119562.1,