rs193922802

Orientation

plus

Stabilized

plus

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

Make rs193922802(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38499655

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922802
dbSNP (classic)	rs193922802
ClinGen	rs193922802
ebi	rs193922802
HLI	rs193922802
Exac	rs193922802
Gnomad	rs193922802
Varsome	rs193922802
LitVar	rs193922802
Map	rs193922802
PheGenI	rs193922802
Biobank	rs193922802
1000 genomes	rs193922802
hgdp	rs193922802
ensembl	rs193922802
geneview	rs193922802
scholar	rs193922802
google	rs193922802
pharmgkb	rs193922802
gwascentral	rs193922802
openSNP	rs193922802
23andMe	rs193922802
SNPshot	rs193922802
SNPdbe	rs193922802
MSV3d	rs193922802
GWAS Ctlg	rs193922802

Max Magnitude

3

rs193922802, aka p.Ala2350Thr or p.A2350T, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.

23andMe name: i5000016

ClinVar
Risk	rs193922802(A;A)
Alt	rs193922802(A;A)
Reference	Rs193922802(G;G)
Significance	Pathogenic
Disease	not provided Malignant hyperthermia
Variation	info
Gene	RYR1
CLNDBN	not provided Malignant hyperthermia, susceptibility to, 1
Reversed	0
HGVS	NC_000019.9:g.38990295G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119681.1, RCV000148806.1,