rs193922807

Orientation

plus

Stabilized

plus

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

Make rs193922807(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38499731

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922807
dbSNP (classic)	rs193922807
ClinGen	rs193922807
ebi	rs193922807
HLI	rs193922807
Exac	rs193922807
Gnomad	rs193922807
Varsome	rs193922807
LitVar	rs193922807
Map	rs193922807
PheGenI	rs193922807
Biobank	rs193922807
1000 genomes	rs193922807
hgdp	rs193922807
ensembl	rs193922807
geneview	rs193922807
scholar	rs193922807
google	rs193922807
pharmgkb	rs193922807
gwascentral	rs193922807
openSNP	rs193922807
23andMe	rs193922807
SNPshot	rs193922807
SNPdbe	rs193922807
MSV3d	rs193922807
GWAS Ctlg	rs193922807

Max Magnitude

3

rs193922807, aka p.Gly2375Ala or p.G2375A, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.

23andMe name: i5000017

ClinVar
Risk	rs193922807(C;C)
Alt	rs193922807(C;C)
Reference	Rs193922807(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	RYR1
CLNDBN	not provided
Reversed	0
HGVS	NC_000019.9:g.38990371G>C
CLNSRC	ClinVar
CLNACC	RCV000119690.1,