rs118192183

plus

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

Make rs118192183(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38584992

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192183
dbSNP (classic)	rs118192183
ClinGen	rs118192183
ebi	rs118192183
HLI	rs118192183
Exac	rs118192183
Gnomad	rs118192183
Varsome	rs118192183
LitVar	rs118192183
Map	rs118192183
PheGenI	rs118192183
Biobank	rs118192183
1000 genomes	rs118192183
hgdp	rs118192183
ensembl	rs118192183
geneview	rs118192183
scholar	rs118192183
google	rs118192183
pharmgkb	rs118192183
gwascentral	rs118192183
openSNP	rs118192183
23andMe	rs118192183
SNPshot	rs118192183
SNPdbe	rs118192183
MSV3d	rs118192183
GWAS Ctlg	rs118192183

Max Magnitude

3

ClinVar
Risk	rs118192183(A;A)
Alt	rs118192183(A;A)
Reference	Rs118192183(G;G)
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.39075632G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056195.1, RCV000119554.1,

[PMID 11709545] Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

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