rs193922816

Orientation

plus

Stabilized

plus

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

Make rs193922816(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38500642

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922816
dbSNP (classic)	rs193922816
ClinGen	rs193922816
ebi	rs193922816
HLI	rs193922816
Exac	rs193922816
Gnomad	rs193922816
Varsome	rs193922816
LitVar	rs193922816
Map	rs193922816
PheGenI	rs193922816
Biobank	rs193922816
1000 genomes	rs193922816
hgdp	rs193922816
ensembl	rs193922816
geneview	rs193922816
scholar	rs193922816
google	rs193922816
pharmgkb	rs193922816
gwascentral	rs193922816
openSNP	rs193922816
23andMe	rs193922816
SNPshot	rs193922816
SNPdbe	rs193922816
MSV3d	rs193922816
GWAS Ctlg	rs193922816

Max Magnitude

3

rs193922816, aka p.Arg2454Cys or p.R2454C, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.

ClinVar
Risk	rs193922816(T;T)
Alt	rs193922816(T;T)
Reference	Rs193922816(C;C)
Significance	Probable-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.38991282C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000119709.1, RCV000153866.3, RCV000178593.1,