rs118192146

Orientation

plus

Stabilized

plus

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

Make rs118192146(A;G)

Make rs118192146(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38580449

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192146
dbSNP (classic)	rs118192146
ClinGen	rs118192146
ebi	rs118192146
HLI	rs118192146
Exac	rs118192146
Gnomad	rs118192146
Varsome	rs118192146
LitVar	rs118192146
Map	rs118192146
PheGenI	rs118192146
Biobank	rs118192146
1000 genomes	rs118192146
hgdp	rs118192146
ensembl	rs118192146
geneview	rs118192146
scholar	rs118192146
google	rs118192146
pharmgkb	rs118192146
gwascentral	rs118192146
openSNP	rs118192146
23andMe	rs118192146
SNPshot	rs118192146
SNPdbe	rs118192146
MSV3d	rs118192146
GWAS Ctlg	rs118192146

Max Magnitude

0

ClinVar
Risk	rs118192146(G;G)
Alt	rs118192146(G;G)
Reference	Rs118192146(A;A)
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.39071089A>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000056251.1, RCV000119535.1,