rs118192133

Orientation

plus

Stabilized

plus

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

Make rs118192133(A;A)

Make rs118192133(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38572172

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192133
dbSNP (classic)	rs118192133
ClinGen	rs118192133
ebi	rs118192133
HLI	rs118192133
Exac	rs118192133
Gnomad	rs118192133
Varsome	rs118192133
LitVar	rs118192133
Map	rs118192133
PheGenI	rs118192133
Biobank	rs118192133
1000 genomes	rs118192133
hgdp	rs118192133
ensembl	rs118192133
geneview	rs118192133
scholar	rs118192133
google	rs118192133
pharmgkb	rs118192133
gwascentral	rs118192133
openSNP	rs118192133
23andMe	rs118192133
SNPshot	rs118192133
SNPdbe	rs118192133
MSV3d	rs118192133
GWAS Ctlg	rs118192133

Max Magnitude

0

ClinVar
Risk	rs118192133(A;A)
Alt	rs118192133(A;A)
Reference	Rs118192133(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.39062812G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056181.1, RCV000119486.1,