rs118192142

Orientation

plus

Stabilized

plus

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

Make rs118192142(C;T)

Make rs118192142(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38580057

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs118192142
dbSNP (classic)	rs118192142
ClinGen	rs118192142
ebi	rs118192142
HLI	rs118192142
Exac	rs118192142
Gnomad	rs118192142
Varsome	rs118192142
LitVar	rs118192142
Map	rs118192142
PheGenI	rs118192142
Biobank	rs118192142
1000 genomes	rs118192142
hgdp	rs118192142
ensembl	rs118192142
geneview	rs118192142
scholar	rs118192142
google	rs118192142
pharmgkb	rs118192142
gwascentral	rs118192142
openSNP	rs118192142
23andMe	rs118192142
SNPshot	rs118192142
SNPdbe	rs118192142
MSV3d	rs118192142
GWAS Ctlg	rs118192142

Max Magnitude

0

ClinVar
Risk	rs118192142(T;T)
Alt	rs118192142(T;T)
Reference	Rs118192142(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.39070697C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056211.1, RCV000119514.1,