rs193922772

Orientation

plus

Stabilized

plus

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

Make rs193922772(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38457546

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922772
dbSNP (classic)	rs193922772
ClinGen	rs193922772
ebi	rs193922772
HLI	rs193922772
Exac	rs193922772
Gnomad	rs193922772
Varsome	rs193922772
LitVar	rs193922772
Map	rs193922772
PheGenI	rs193922772
Biobank	rs193922772
1000 genomes	rs193922772
hgdp	rs193922772
ensembl	rs193922772
geneview	rs193922772
scholar	rs193922772
google	rs193922772
pharmgkb	rs193922772
gwascentral	rs193922772
openSNP	rs193922772
23andMe	rs193922772
SNPshot	rs193922772
SNPdbe	rs193922772
MSV3d	rs193922772
GWAS Ctlg	rs193922772

Max Magnitude

3

rs193922772, aka c.1841G>T, p.Arg614Leu or p.R614L, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.

ClinVar
Risk	rs193922772(A;A) rs193922772(T;T)
Alt	rs193922772(A;A) rs193922772(T;T)
Reference	Rs193922772(G;G)
Significance	Pathogenic
Disease	not provided Malignant hyperthermia Central core disease
Variation	info
Gene	RYR1
CLNDBN	not provided Malignant hyperthermia, susceptibility to, 1 Central core disease
Reversed	0
HGVS	NC_000019.9:g.38948186G>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000119587.3, RCV000175143.1, RCV000175144.1,