rs121918596

Orientation

plus

Stabilized

plus

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

Make rs121918596(-;-)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38499646

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs121918596
dbSNP (classic)	rs121918596
ClinGen	rs121918596
ebi	rs121918596
HLI	rs121918596
Exac	rs121918596
Gnomad	rs121918596
Varsome	rs121918596
LitVar	rs121918596
Map	rs121918596
PheGenI	rs121918596
Biobank	rs121918596
1000 genomes	rs121918596
hgdp	rs121918596
ensembl	rs121918596
geneview	rs121918596
scholar	rs121918596
google	rs121918596
pharmgkb	rs121918596
gwascentral	rs121918596
openSNP	rs121918596
23andMe	rs121918596
SNPshot	rs121918596
SNPdbe	rs121918596
MSV3d	rs121918596
GWAS Ctlg	rs121918596

Max Magnitude

3

OMIM	180901
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121918596(-;-) rs121918596(GGA;GGA)
Alt	rs121918596(-;-) rs121918596(GGA;GGA)
Reference	Rs121918596(GAG;GAG)
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	RCV000013850.4, RCV000119679.1, RCV000171131.3,

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