rs118192162

plus

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(A;C)	3	susceptibility to malignant hyperthermia
(A;G)	3	malignant hyperthermia

Make rs118192162(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38455359

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192162
dbSNP (classic)	rs118192162
ClinGen	rs118192162
ebi	rs118192162
HLI	rs118192162
Exac	rs118192162
Gnomad	rs118192162
Varsome	rs118192162
LitVar	rs118192162
Map	rs118192162
PheGenI	rs118192162
Biobank	rs118192162
1000 genomes	rs118192162
hgdp	rs118192162
ensembl	rs118192162
geneview	rs118192162
scholar	rs118192162
google	rs118192162
pharmgkb	rs118192162
gwascentral	rs118192162
openSNP	rs118192162
23andMe	rs118192162
SNPshot	rs118192162
SNPdbe	rs118192162
MSV3d	rs118192162
GWAS Ctlg	rs118192162

Max Magnitude

3

OMIM	180901
Desc
Variant	0031
Related	also

ClinVar
Risk	rs118192162(C;C) rs118192162(G;G)
Alt	rs118192162(C;C) rs118192162(G;G)
Reference	Rs118192162(A;A)
Significance	Other
Disease	Malignant hyperthermia Central core disease not provided
Variation	info
Gene	RYR1
CLNDBN	Malignant hyperthermia, susceptibility to, 1 Central core disease not provided
Reversed	0
HGVS	NC_000019.9:g.38945999A>C; NC_000019.9:g.38945999A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013865.3, RCV000013866.18, RCV000119574.1, RCV000119575.1,

rs118192162, aka c.1565A>C (p.Tyr522Ser or Y522S) and also c.1565A>G (p.Tyr522Cys or Y522C), is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.

23andMe name for c.1565A>G: i6017825

[PMID 7829078] Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

[PMID 19020143] A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser.