rs111888148

Orientation

plus

Stabilized

plus

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

Make rs111888148(A;A)

Reference

GRCh38 38.1/142

Chromosome

19

Position

38455463

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs111888148
dbSNP (classic)	rs111888148
ClinGen	rs111888148
ebi	rs111888148
HLI	rs111888148
Exac	rs111888148
Gnomad	rs111888148
Varsome	rs111888148
LitVar	rs111888148
Map	rs111888148
PheGenI	rs111888148
Biobank	rs111888148
1000 genomes	rs111888148
hgdp	rs111888148
ensembl	rs111888148
geneview	rs111888148
scholar	rs111888148
google	rs111888148
pharmgkb	rs111888148
gwascentral	rs111888148
openSNP	rs111888148
23andMe	rs111888148
SNPshot	rs111888148
SNPdbe	rs111888148
MSV3d	rs111888148
GWAS Ctlg	rs111888148

Max Magnitude

3

aka c.1589G>A (p.Arg530His or R530H)

23andMe name: i6017722

ClinVar
Risk	rs111888148(A;A) rs111888148(T;T)
Alt	rs111888148(A;A) rs111888148(T;T)
Reference	Rs111888148(G;G)
Significance	Pathogenic
Disease	not provided Malignant hyperthermia not specified
Variation	info
Gene	RYR1
CLNDBN	not provided Malignant hyperthermia, susceptibility to, 1 not specified
Reversed	0
HGVS	NC_000019.9:g.38946103G>A; NC_000019.9:g.38946103G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119576.1, RCV000148805.1, RCV000194141.1,