rs118192170

plus

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

Make rs118192170(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38584989

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192170
dbSNP (classic)	rs118192170
ClinGen	rs118192170
ebi	rs118192170
HLI	rs118192170
Exac	rs118192170
Gnomad	rs118192170
Varsome	rs118192170
LitVar	rs118192170
Map	rs118192170
PheGenI	rs118192170
Biobank	rs118192170
1000 genomes	rs118192170
hgdp	rs118192170
ensembl	rs118192170
geneview	rs118192170
scholar	rs118192170
google	rs118192170
pharmgkb	rs118192170
gwascentral	rs118192170
openSNP	rs118192170
23andMe	rs118192170
SNPshot	rs118192170
SNPdbe	rs118192170
MSV3d	rs118192170
GWAS Ctlg	rs118192170

Max Magnitude

3

OMIM	180901
Desc
Variant	0012
Related	also

ClinVar
Risk	rs118192170(C;C)
Alt	rs118192170(C;C)
Reference	Rs118192170(T;T)
Significance	Other
Disease	Central core disease Malignant hyperthermia not provided
Variation	info
Gene	RYR1
CLNDBN	Central core disease Malignant hyperthermia, susceptibility to, 1 not provided
Reversed	0
HGVS	NC_000019.9:g.39075629T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013843.25, RCV000013844.3, RCV000119552.1,

rs118192170, aka p.Ile4898Thr or p.I4898T, is a SNP in the RYR1 gene associated with both malignant hyperthermia and central core disease when heterozygous.

23andMe name: i6017636

[PMID 10097181 ] A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

[PMID 11741831] Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.

[PMID 17081152] Malignant hyperthermia and central core disease causative mutations in Swedish patients.