rs367543055

Orientation

plus

Stabilized

plus

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

Make rs367543055(A;A)

Make rs367543055(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38485988

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs367543055
dbSNP (classic)	rs367543055
ClinGen	rs367543055
ebi	rs367543055
HLI	rs367543055
Exac	rs367543055
Gnomad	rs367543055
Varsome	rs367543055
LitVar	rs367543055
Map	rs367543055
PheGenI	rs367543055
Biobank	rs367543055
1000 genomes	rs367543055
hgdp	rs367543055
ensembl	rs367543055
geneview	rs367543055
scholar	rs367543055
google	rs367543055
pharmgkb	rs367543055
gwascentral	rs367543055
openSNP	rs367543055
23andMe	rs367543055
SNPshot	rs367543055
SNPdbe	rs367543055
MSV3d	rs367543055
GWAS Ctlg	rs367543055

Max Magnitude

0

ClinVar
Risk	rs367543055(A;A) rs367543055(T;T)
Alt	rs367543055(A;A) rs367543055(T;T)
Reference	Rs367543055(C;C)
Significance	Pathogenic
Disease	Congenital myopathy with fiber type disproportion
Variation	info
Gene	RYR1
CLNDBN	Congenital myopathy with fiber type disproportion
Reversed	0
HGVS	NC_000019.9:g.38976628C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034928.1,

[PMID 20583297] Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.