rs118204421

Orientation

plus

Stabilized

plus

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

Make rs118204421(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38519237

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118204421
dbSNP (classic)	rs118204421
ClinGen	rs118204421
ebi	rs118204421
HLI	rs118204421
Exac	rs118204421
Gnomad	rs118204421
Varsome	rs118204421
LitVar	rs118204421
Map	rs118204421
PheGenI	rs118204421
Biobank	rs118204421
1000 genomes	rs118204421
hgdp	rs118204421
ensembl	rs118204421
geneview	rs118204421
scholar	rs118204421
google	rs118204421
pharmgkb	rs118204421
gwascentral	rs118204421
openSNP	rs118204421
23andMe	rs118204421
SNPshot	rs118204421
SNPdbe	rs118204421
MSV3d	rs118204421
GWAS Ctlg	rs118204421

Max Magnitude

3

ClinVar
Risk	rs118204421(G;G) rs118204421(T;T)
Alt	rs118204421(G;G) rs118204421(T;T)
Reference	Rs118204421(C;C)
Significance	Probable-Pathogenic
Disease	Central core disease Neuromuscular disease Multiminicore Disease Malignant hyperthermia susceptibility
Variation	info
Gene	RYR1
CLNDBN	Central core disease Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore Disease Malignant hyperthermia susceptibility
Reversed	0
HGVS	NC_000019.9:g.39009877C>T
CLNSRC
CLNACC	RCV000263630.1, RCV000318907.1, RCV000373530.1, RCV000377005.1,