rs118192120

Orientation

plus

Stabilized

plus

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

Make rs118192120(A;A)

Make rs118192120(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38483311

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192120
dbSNP (classic)	rs118192120
ClinGen	rs118192120
ebi	rs118192120
HLI	rs118192120
Exac	rs118192120
Gnomad	rs118192120
Varsome	rs118192120
LitVar	rs118192120
Map	rs118192120
PheGenI	rs118192120
Biobank	rs118192120
1000 genomes	rs118192120
hgdp	rs118192120
ensembl	rs118192120
geneview	rs118192120
scholar	rs118192120
google	rs118192120
pharmgkb	rs118192120
gwascentral	rs118192120
openSNP	rs118192120
23andMe	rs118192120
SNPshot	rs118192120
SNPdbe	rs118192120
MSV3d	rs118192120
GWAS Ctlg	rs118192120

Max Magnitude

0

ClinVar
Risk	rs118192120(A;A)
Alt	rs118192120(A;A)
Reference	Rs118192120(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.38973951G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056170.1, RCV000119622.1,