rs146876145

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.6	Malignant Hyperthermia susceptibility

Make rs146876145(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

38586140

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs146876145
dbSNP (classic)	rs146876145
ClinGen	rs146876145
ebi	rs146876145
HLI	rs146876145
Exac	rs146876145
Gnomad	rs146876145
Varsome	rs146876145
LitVar	rs146876145
Map	rs146876145
PheGenI	rs146876145
Biobank	rs146876145
1000 genomes	rs146876145
hgdp	rs146876145
ensembl	rs146876145
geneview	rs146876145
scholar	rs146876145
google	rs146876145
pharmgkb	rs146876145
gwascentral	rs146876145
openSNP	rs146876145
23andMe	rs146876145
SNPshot	rs146876145
SNPdbe	rs146876145
MSV3d	rs146876145
GWAS Ctlg	rs146876145

Max Magnitude

6.6

ClinVar
Risk	rs146876145(T;T)
Alt	rs146876145(T;T)
Reference	Rs146876145(C;C)
Significance	Probable-Pathogenic
Disease	not provided Malignant hyperthermia Central core disease
Variation	info
Gene	RYR1
CLNDBN	not provided Malignant hyperthermia, susceptibility to, 1 Central core disease
Reversed	0
HGVS	NC_000019.9:g.39076780C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119571.1, RCV000148804.2, RCV000173939.1,