rs118192119

Orientation

plus

Stabilized

plus

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

Make rs118192119(A;A)

Make rs118192119(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38455328

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192119
dbSNP (classic)	rs118192119
ClinGen	rs118192119
ebi	rs118192119
HLI	rs118192119
Exac	rs118192119
Gnomad	rs118192119
Varsome	rs118192119
LitVar	rs118192119
Map	rs118192119
PheGenI	rs118192119
Biobank	rs118192119
1000 genomes	rs118192119
hgdp	rs118192119
ensembl	rs118192119
geneview	rs118192119
scholar	rs118192119
google	rs118192119
pharmgkb	rs118192119
gwascentral	rs118192119
openSNP	rs118192119
23andMe	rs118192119
SNPshot	rs118192119
SNPdbe	rs118192119
MSV3d	rs118192119
GWAS Ctlg	rs118192119

Max Magnitude

0

ClinVar
Risk	rs118192119(A;A)
Alt	rs118192119(A;A)
Reference	Rs118192119(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.38945968G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056182.1, RCV000119573.1,