rs118192124

Orientation

plus

Stabilized

plus

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

Make rs118192124(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38500636

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192124
dbSNP (classic)	rs118192124
ClinGen	rs118192124
ebi	rs118192124
HLI	rs118192124
Exac	rs118192124
Gnomad	rs118192124
Varsome	rs118192124
LitVar	rs118192124
Map	rs118192124
PheGenI	rs118192124
Biobank	rs118192124
1000 genomes	rs118192124
hgdp	rs118192124
ensembl	rs118192124
geneview	rs118192124
scholar	rs118192124
google	rs118192124
pharmgkb	rs118192124
gwascentral	rs118192124
openSNP	rs118192124
23andMe	rs118192124
SNPshot	rs118192124
SNPdbe	rs118192124
MSV3d	rs118192124
GWAS Ctlg	rs118192124

Max Magnitude

3

aka c.7354C>T (p.Arg2452Trp or R2452W)

23andMe name: i6017785

ClinVar
Risk	rs118192124(T;T)
Alt	rs118192124(T;T)
Reference	Rs118192124(C;C)
Significance	Pathogenic
Disease	Central core disease not provided
Variation	info
Gene	RYR1
CLNDBN	Central core disease not provided
Reversed	0
HGVS	NC_000019.9:g.38991276C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056226.1, RCV000119706.1,