rs118192113

Orientation

plus

Stabilized

plus

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

Make rs118192113(A;A)

Make rs118192113(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38442395

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192113
dbSNP (classic)	rs118192113
ClinGen	rs118192113
ebi	rs118192113
HLI	rs118192113
Exac	rs118192113
Gnomad	rs118192113
Varsome	rs118192113
LitVar	rs118192113
Map	rs118192113
PheGenI	rs118192113
Biobank	rs118192113
1000 genomes	rs118192113
hgdp	rs118192113
ensembl	rs118192113
geneview	rs118192113
scholar	rs118192113
google	rs118192113
pharmgkb	rs118192113
gwascentral	rs118192113
openSNP	rs118192113
23andMe	rs118192113
SNPshot	rs118192113
SNPdbe	rs118192113
MSV3d	rs118192113
GWAS Ctlg	rs118192113

Max Magnitude

0

ClinVar
Risk	rs118192113(A;A)
Alt	rs118192113(A;A)
Reference	Rs118192113(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.38933035C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056240.1, RCV000119591.1,