rs118192131

Orientation

plus

Stabilized

plus

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

Make rs118192131(C;C)

Make rs118192131(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38570650

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192131
dbSNP (classic)	rs118192131
ClinGen	rs118192131
ebi	rs118192131
HLI	rs118192131
Exac	rs118192131
Gnomad	rs118192131
Varsome	rs118192131
LitVar	rs118192131
Map	rs118192131
PheGenI	rs118192131
Biobank	rs118192131
1000 genomes	rs118192131
hgdp	rs118192131
ensembl	rs118192131
geneview	rs118192131
scholar	rs118192131
google	rs118192131
pharmgkb	rs118192131
gwascentral	rs118192131
openSNP	rs118192131
23andMe	rs118192131
SNPshot	rs118192131
SNPdbe	rs118192131
MSV3d	rs118192131
GWAS Ctlg	rs118192131

Max Magnitude

0

ClinVar
Risk	rs118192131(C;C)
Alt	rs118192131(C;C)
Reference	Rs118192131(T;T)
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.39061290T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000056206.1, RCV000119484.3,