rs794727683

Orientation

plus

Stabilized

plus

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

Make rs794727683(-;-)

Make rs794727683(-;CAAAGATGTCAGC)

Make rs794727683(CAAAGATGTCAGC;CAAAGATGTCAGC)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

38500839

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs794727683
dbSNP (classic)	rs794727683
ClinGen	rs794727683
ebi	rs794727683
HLI	rs794727683
Exac	rs794727683
Gnomad	rs794727683
Varsome	rs794727683
LitVar	rs794727683
Map	rs794727683
PheGenI	rs794727683
Biobank	rs794727683
1000 genomes	rs794727683
hgdp	rs794727683
ensembl	rs794727683
geneview	rs794727683
scholar	rs794727683
google	rs794727683
pharmgkb	rs794727683
gwascentral	rs794727683
openSNP	rs794727683
23andMe	rs794727683
SNPshot	rs794727683
SNPdbe	rs794727683
MSV3d	rs794727683
GWAS Ctlg	rs794727683

Max Magnitude

0

ClinVar
Risk	rs794727683(-;-)
Alt	rs794727683(-;-)
Reference	Rs794727683(CAGCCAAAGATGT;CAGCCAAAGATGT)
Significance	Pathogenic
Disease	Malignant hyperthermia Central core disease
Variation	info
Gene	RYR1
CLNDBN	Malignant hyperthermia, susceptibility to, 1 Central core disease
Reversed	0
HGVS	NC_000019.9:g.38991479_38991491delCAAAGATGTCAGC
CLNSRC
CLNACC	RCV000178616.1, RCV000178617.1,