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rs200069592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200069592(A;A)
Make rs200069592(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position38460380
GeneRYR1
is asnp
is mentioned by
dbSNPrs200069592
ebirs200069592
HLIrs200069592
Exacrs200069592
Varsomers200069592
Maprs200069592
PheGenIrs200069592
hapmaprs200069592
1000 genomesrs200069592
hgdprs200069592
ensemblrs200069592
gopubmedrs200069592
geneviewrs200069592
scholarrs200069592
googlers200069592
pharmgkbrs200069592
gwascentralrs200069592
openSNPrs200069592
23andMers200069592
23andMe allrs200069592
SNP Nexus

SNPshotrs200069592
SNPdbers200069592
MSV3drs200069592
GWAS Ctlgrs200069592
Max Magnitude0
ClinVar
Risk rs200069592(A;A)
Alt rs200069592(A;A)
Reference rs200069592(G;G)
Significance Probable-Pathogenic
Disease not provided Malignant hypothermia
Variation info
Gene RYR1
CLNDBN not provided Malignant hypothermia
Reversed 0
HGVS NC_000019.9:g.38951020G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000147419.1, RCV000238822.1,