rs35180584

Orientation

plus

Stabilized

plus

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

Make rs35180584(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38505358

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs35180584
dbSNP (classic)	rs35180584
ClinGen	rs35180584
ebi	rs35180584
HLI	rs35180584
Exac	rs35180584
Gnomad	rs35180584
Varsome	rs35180584
LitVar	rs35180584
Map	rs35180584
PheGenI	rs35180584
Biobank	rs35180584
1000 genomes	rs35180584
hgdp	rs35180584
ensembl	rs35180584
geneview	rs35180584
scholar	rs35180584
google	rs35180584
pharmgkb	rs35180584
gwascentral	rs35180584
openSNP	rs35180584
23andMe	rs35180584
SNPshot	rs35180584
SNPdbe	rs35180584
MSV3d	rs35180584
GWAS Ctlg	rs35180584

GMAF

0.0101

Max Magnitude

3

OMIM	180901
Desc
Variant	0023
Related	also

ClinVar
Risk	rs35180584(G;G)
Alt	rs35180584(G;G)
Reference	Rs35180584(C;C)
Significance	Other
Disease	Malignant hyperthermia not provided not specified Malignant hypothermia Malignant hyperthermia susceptibility Multiminicore Disease Central core disease Neuromuscular disease
Variation	info
Gene	RYR1
CLNDBN	Malignant hyperthermia, susceptibility to, 1 not provided not specified Malignant hypothermia Malignant hyperthermia susceptibility Multiminicore Disease Central core disease Neuromuscular disease, congenital, with uniform type 1 fiber
Reversed	0
HGVS	NC_000019.9:g.38995998C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013857.2, RCV000119746.1, RCV000147446.3, RCV000202878.1, RCV000209984.1, RCV000313269.1, RCV000335435.1, RCV000392959.1, RCV000403812.1,

rs35180584, aka p.Thr2787Ser, may be an "aggravating" mutation associated with malignant hyperthermia.[PMID 14732627]

[PMID 16163667] Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.