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rs121918596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GAG) 3 susceptibility to malignant hyperthermia
(GAG;GAG) 0 common


Make rs121918596(-;-)
ReferenceGRCh38 38.1/141
Chromosome19
Position38499646
GeneRYR1
is asnp
is mentioned by
dbSNPrs121918596
ebirs121918596
HLIrs121918596
Exacrs121918596
Varsomers121918596
Maprs121918596
PheGenIrs121918596
hapmaprs121918596
1000 genomesrs121918596
hgdprs121918596
ensemblrs121918596
gopubmedrs121918596
geneviewrs121918596
scholarrs121918596
googlers121918596
pharmgkbrs121918596
gwascentralrs121918596
openSNPrs121918596
23andMers121918596
23andMe allrs121918596
SNP Nexus

SNPshotrs121918596
SNPdbers121918596
MSV3drs121918596
GWAS Ctlgrs121918596
Max Magnitude3
OMIM180901
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121918596(;)
Alt rs121918596(;)
Reference rs121918596(GGA;GGA)
Significance Other
Disease Malignant hyperthermia not provided Minicore myopathy with external ophthalmoplegia
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 not provided Minicore myopathy with external ophthalmoplegia
Reversed 0
HGVS NC_000019.9:g.38990289_38990291delGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000013850.3, RCV000119679.1, RCV000171131.2,



rs121918596, aka p.Glu2347del, is a deletion SNP in the RYR1 gene associated with malignant hyperthermia.