rs112563513

Orientation

plus

Stabilized

plus

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

Make rs112563513(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

38499223

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs112563513
dbSNP (classic)	rs112563513
ClinGen	rs112563513
ebi	rs112563513
HLI	rs112563513
Exac	rs112563513
Gnomad	rs112563513
Varsome	rs112563513
LitVar	rs112563513
Map	rs112563513
PheGenI	rs112563513
Biobank	rs112563513
1000 genomes	rs112563513
hgdp	rs112563513
ensembl	rs112563513
geneview	rs112563513
scholar	rs112563513
google	rs112563513
pharmgkb	rs112563513
gwascentral	rs112563513
openSNP	rs112563513
23andMe	rs112563513
SNPshot	rs112563513
SNPdbe	rs112563513
MSV3d	rs112563513
GWAS Ctlg	rs112563513

Max Magnitude

3

aka c.7007G>A (p.Arg2336His or R2336H)

23andMe name: i6017686

ClinVar
Risk	rs112563513(A;A)
Alt	rs112563513(A;A)
Reference	Rs112563513(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	RYR1
CLNDBN	not provided
Reversed	0
HGVS	NC_000019.9:g.38989863G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119673.1,