rs118192161

plus

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

Make rs118192161(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38444211

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192161
dbSNP (classic)	rs118192161
ClinGen	rs118192161
ebi	rs118192161
HLI	rs118192161
Exac	rs118192161
Gnomad	rs118192161
Varsome	rs118192161
LitVar	rs118192161
Map	rs118192161
PheGenI	rs118192161
Biobank	rs118192161
1000 genomes	rs118192161
hgdp	rs118192161
ensembl	rs118192161
geneview	rs118192161
scholar	rs118192161
google	rs118192161
pharmgkb	rs118192161
gwascentral	rs118192161
openSNP	rs118192161
23andMe	rs118192161
SNPshot	rs118192161
SNPdbe	rs118192161
MSV3d	rs118192161
GWAS Ctlg	rs118192161

Max Magnitude

3

OMIM	180901
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118192161(T;T)
Alt	rs118192161(T;T)
Reference	Rs118192161(C;C)
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.38934851C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013833.4, RCV000013834.26, RCV000119625.1,

rs118192161, aka p.Arg163Cys or p.R163C, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.

23andMe name: i6017661

[PMID 8220423] Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.

[PMID 21499247 ] Exome sequencing identifies GRIN2A as frequently mutated in melanoma.

[PMID 8592342 ] Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia.