rs118192122

Orientation

plus

Stabilized

plus

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

Make rs118192122(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38500643

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192122
dbSNP (classic)	rs118192122
ClinGen	rs118192122
ebi	rs118192122
HLI	rs118192122
Exac	rs118192122
Gnomad	rs118192122
Varsome	rs118192122
LitVar	rs118192122
Map	rs118192122
PheGenI	rs118192122
Biobank	rs118192122
1000 genomes	rs118192122
hgdp	rs118192122
ensembl	rs118192122
geneview	rs118192122
scholar	rs118192122
google	rs118192122
pharmgkb	rs118192122
gwascentral	rs118192122
openSNP	rs118192122
23andMe	rs118192122
SNPshot	rs118192122
SNPdbe	rs118192122
MSV3d	rs118192122
GWAS Ctlg	rs118192122

Max Magnitude

3

rs118192122, aka p.Arg2454His or p.R2454H, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.

ClinVar
Risk	rs118192122(A;A)
Alt	rs118192122(A;A)
Reference	Rs118192122(G;G)
Significance	Pathogenic
Disease	Central core disease not provided
Variation	info
Gene	RYR1
CLNDBN	Central core disease not provided
Reversed	0
HGVS	NC_000019.9:g.38991283G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056227.1, RCV000119710.1,