rs193922768

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	malignant hyperthermia
(C;C)	0	common in clinvar
(C;T)	3	malignant hyperthermia

Make rs193922768(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

38455471

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs193922768
dbSNP (classic)	rs193922768
ClinGen	rs193922768
ebi	rs193922768
HLI	rs193922768
Exac	rs193922768
Gnomad	rs193922768
Varsome	rs193922768
LitVar	rs193922768
Map	rs193922768
PheGenI	rs193922768
Biobank	rs193922768
1000 genomes	rs193922768
hgdp	rs193922768
ensembl	rs193922768
geneview	rs193922768
scholar	rs193922768
google	rs193922768
pharmgkb	rs193922768
gwascentral	rs193922768
openSNP	rs193922768
23andMe	rs193922768
SNPshot	rs193922768
SNPdbe	rs193922768
MSV3d	rs193922768
GWAS Ctlg	rs193922768

Max Magnitude

3

aka c.1597C>A (p.Arg533Ser or R533S) and also c.1597C>T (p.Arg533Cys or R533C)

23andMe name for c.1597C>T: i6017837

ClinVar
Risk	rs193922768(A;A) rs193922768(G;G) rs193922768(T;T)
Alt	rs193922768(A;A) rs193922768(G;G) rs193922768(T;T)
Reference	Rs193922768(C;C)
Significance	Probable-Pathogenic
Disease	Malignant hyperthermia not provided
Variation	info
Gene	RYR1
CLNDBN	Malignant hyperthermia not provided
Reversed	0
HGVS	NC_000019.9:g.38946111C>A; NC_000019.9:g.38946111C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000357828.1, RCV000119577.1,