rs193922797

Orientation

plus

Stabilized

plus

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

Make rs193922797(A;A)

Make rs193922797(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

38496901

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922797
dbSNP (classic)	rs193922797
ClinGen	rs193922797
ebi	rs193922797
HLI	rs193922797
Exac	rs193922797
Gnomad	rs193922797
Varsome	rs193922797
LitVar	rs193922797
Map	rs193922797
PheGenI	rs193922797
Biobank	rs193922797
1000 genomes	rs193922797
hgdp	rs193922797
ensembl	rs193922797
geneview	rs193922797
scholar	rs193922797
google	rs193922797
pharmgkb	rs193922797
gwascentral	rs193922797
openSNP	rs193922797
23andMe	rs193922797
SNPshot	rs193922797
SNPdbe	rs193922797
MSV3d	rs193922797
GWAS Ctlg	rs193922797

Max Magnitude

0

ClinVar
Risk	rs193922797(A;A)
Alt	rs193922797(A;A)
Reference	Rs193922797(G;G)
Significance	Probable-Pathogenic
Disease	not provided Malignant hyperthermia
Variation	info
Gene	RYR1
CLNDBN	not provided Malignant hyperthermia, susceptibility to, 1
Reversed	0
HGVS	NC_000019.9:g.38987541G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119670.1, RCV000185536.2,