rs118192181

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	can be associated with central core disease

Make rs118192181(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38580439

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192181
dbSNP (classic)	rs118192181
ClinGen	rs118192181
ebi	rs118192181
HLI	rs118192181
Exac	rs118192181
Gnomad	rs118192181
Varsome	rs118192181
LitVar	rs118192181
Map	rs118192181
PheGenI	rs118192181
Biobank	rs118192181
1000 genomes	rs118192181
hgdp	rs118192181
ensembl	rs118192181
geneview	rs118192181
scholar	rs118192181
google	rs118192181
pharmgkb	rs118192181
gwascentral	rs118192181
openSNP	rs118192181
23andMe	rs118192181
SNPshot	rs118192181
SNPdbe	rs118192181
MSV3d	rs118192181
GWAS Ctlg	rs118192181

Max Magnitude

3

ClinVar
Risk	rs118192181(T;T)
Alt	rs118192181(T;T)
Reference	Rs118192181(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.39071079C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056233.1, RCV000119532.4,

[PMID 12565913] Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.

[PMID 17226826] Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

[PMID 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.