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rs139161723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139161723(A;A)
Make rs139161723(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position38440830
GeneRYR1
is asnp
is mentioned by
dbSNPrs139161723
dbSNP (classic)rs139161723
ClinGenrs139161723
ebirs139161723
HLIrs139161723
Exacrs139161723
Gnomadrs139161723
Varsomers139161723
LitVarrs139161723
Maprs139161723
PheGenIrs139161723
Biobankrs139161723
1000 genomesrs139161723
hgdprs139161723
ensemblrs139161723
geneviewrs139161723
scholarrs139161723
googlers139161723
pharmgkbrs139161723
gwascentralrs139161723
openSNPrs139161723
23andMers139161723
23andMe allrs139161723
SNPshotrs139161723
SNPdbers139161723
MSV3drs139161723
GWAS Ctlgrs139161723
Max Magnitude0
ClinVar
Risk rs139161723(A;A)
Alt rs139161723(A;A)
Reference Rs139161723(G;G)
Significance Probable-Pathogenic
Disease not provided Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN not provided Malignant hyperthermia, susceptibility to, 1
Reversed 0
HGVS NC_000019.9:g.38931470G>A
CLNSRC
CLNACC RCV000119474.1, RCV000148813.1,