rs118192147

Orientation

plus

Stabilized

plus

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

Make rs118192147(C;T)

Make rs118192147(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38584955

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192147
dbSNP (classic)	rs118192147
ClinGen	rs118192147
ebi	rs118192147
HLI	rs118192147
Exac	rs118192147
Gnomad	rs118192147
Varsome	rs118192147
LitVar	rs118192147
Map	rs118192147
PheGenI	rs118192147
Biobank	rs118192147
1000 genomes	rs118192147
hgdp	rs118192147
ensembl	rs118192147
geneview	rs118192147
scholar	rs118192147
google	rs118192147
pharmgkb	rs118192147
gwascentral	rs118192147
openSNP	rs118192147
23andMe	rs118192147
SNPshot	rs118192147
SNPdbe	rs118192147
MSV3d	rs118192147
GWAS Ctlg	rs118192147

Max Magnitude

0

ClinVar
Risk	rs118192147(T;T)
Alt	rs118192147(T;T)
Reference	Rs118192147(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.39075595C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056199.1, RCV000119542.1,