rs193922753

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	malignant hyperthermia

Make rs193922753(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38444212

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922753
dbSNP (classic)	rs193922753
ClinGen	rs193922753
ebi	rs193922753
HLI	rs193922753
Exac	rs193922753
Gnomad	rs193922753
Varsome	rs193922753
LitVar	rs193922753
Map	rs193922753
PheGenI	rs193922753
Biobank	rs193922753
1000 genomes	rs193922753
hgdp	rs193922753
ensembl	rs193922753
geneview	rs193922753
scholar	rs193922753
google	rs193922753
pharmgkb	rs193922753
gwascentral	rs193922753
openSNP	rs193922753
23andMe	rs193922753
SNPshot	rs193922753
SNPdbe	rs193922753
MSV3d	rs193922753
GWAS Ctlg	rs193922753

Max Magnitude

3

rs193922753, aka c.488G>T, p.Arg163Leu or p.R163L, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.

23andMe name: i6017694

ClinVar
Risk	rs193922753(A;A) rs193922753(T;T)
Alt	rs193922753(A;A) rs193922753(T;T)
Reference	Rs193922753(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	RYR1
CLNDBN	not provided
Reversed	0
HGVS	NC_000019.9:g.38934852G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119626.1,