rs118192176

plus

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

Make rs118192176(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38494579

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192176
dbSNP (classic)	rs118192176
ClinGen	rs118192176
ebi	rs118192176
HLI	rs118192176
Exac	rs118192176
Gnomad	rs118192176
Varsome	rs118192176
LitVar	rs118192176
Map	rs118192176
PheGenI	rs118192176
Biobank	rs118192176
1000 genomes	rs118192176
hgdp	rs118192176
ensembl	rs118192176
geneview	rs118192176
scholar	rs118192176
google	rs118192176
pharmgkb	rs118192176
gwascentral	rs118192176
openSNP	rs118192176
23andMe	rs118192176
SNPshot	rs118192176
SNPdbe	rs118192176
MSV3d	rs118192176
GWAS Ctlg	rs118192176

Max Magnitude

3

OMIM	180901
Desc
Variant	0013
Related	also

ClinVar
Risk	rs118192176(A;A)
Alt	rs118192176(A;A)
Reference	Rs118192176(G;G)
Significance	Other
Disease	Malignant hyperthermia not provided
Variation	info
Gene	RYR1
CLNDBN	Malignant hyperthermia, susceptibility to, 1 not provided
Reversed	0
HGVS	NC_000019.9:g.38985219G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013845.3, RCV000119656.1,

rs118192176, aka p.Val2168Met or p.V2168M, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.

23andMe name: i5000015

[PMID 9497245 ] Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

[PMID 12059893] Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.

[PMID 12434264] [Current aspects of the diagnosis of malignant hyperthermia].

[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.

[PMID 17710899] Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.