rs118192116

Orientation

plus

Stabilized

plus

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

Make rs118192116(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38451850

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192116
dbSNP (classic)	rs118192116
ClinGen	rs118192116
ebi	rs118192116
HLI	rs118192116
Exac	rs118192116
Gnomad	rs118192116
Varsome	rs118192116
LitVar	rs118192116
Map	rs118192116
PheGenI	rs118192116
Biobank	rs118192116
1000 genomes	rs118192116
hgdp	rs118192116
ensembl	rs118192116
geneview	rs118192116
scholar	rs118192116
google	rs118192116
pharmgkb	rs118192116
gwascentral	rs118192116
openSNP	rs118192116
23andMe	rs118192116
SNPshot	rs118192116
SNPdbe	rs118192116
MSV3d	rs118192116
GWAS Ctlg	rs118192116

Max Magnitude

3

aka c.1209C>G (p.Ile403Met or I403M)

23andMe name: i5000011

OMIM	180901
Desc
Variant	0005
Related	also

ClinVar
Risk	rs118192116(G;G)
Alt	rs118192116(G;G)
Reference	Rs118192116(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.38942490C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013835.19, RCV000119453.1,