rs147012990

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs147012990(C;C)

Make rs147012990(C;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

38512253

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs147012990
dbSNP (classic)	rs147012990
ClinGen	rs147012990
ebi	rs147012990
HLI	rs147012990
Exac	rs147012990
Gnomad	rs147012990
Varsome	rs147012990
LitVar	rs147012990
Map	rs147012990
PheGenI	rs147012990
Biobank	rs147012990
1000 genomes	rs147012990
hgdp	rs147012990
ensembl	rs147012990
geneview	rs147012990
scholar	rs147012990
google	rs147012990
pharmgkb	rs147012990
gwascentral	rs147012990
openSNP	rs147012990
23andMe	rs147012990
SNPshot	rs147012990
SNPdbe	rs147012990
MSV3d	rs147012990
GWAS Ctlg	rs147012990

Max Magnitude

0

ClinVar
Risk	rs147012990(C;C)
Alt	rs147012990(C;C)
Reference	Rs147012990(T;T)
Significance	Other
Disease	Minicore myopathy with external ophthalmoplegia Malignant hyperthermia not specified Multiminicore Disease Malignant hyperthermia susceptibility Neuromuscular disease Central core disease
Variation	info
Gene	RYR1
CLNDBN	Minicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 not specified Multiminicore Disease Malignant hyperthermia susceptibility Neuromuscular disease, congenital, with uniform type 1 fiber Central core disease
Reversed	0
HGVS	NC_000019.9:g.39002893T>C
CLNSRC	ClinVar
CLNACC	RCV000022757.1, RCV000210003.1, RCV000253393.3, RCV000300656.1, RCV000335822.1, RCV000357829.1, RCV000404978.1,