rs1801086

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	malignant hyperthermia
(C;G)	3	malignant hyperthermia
(G;G)	0	common in complete genomics

Make rs1801086(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

38446710

Gene

RYR1

is a	snp
is	mentioned by
dbSNP	rs1801086
dbSNP (classic)	rs1801086
ClinGen	rs1801086
ebi	rs1801086
HLI	rs1801086
Exac	rs1801086
Gnomad	rs1801086
Varsome	rs1801086
LitVar	rs1801086
Map	rs1801086
PheGenI	rs1801086
Biobank	rs1801086
1000 genomes	rs1801086
hgdp	rs1801086
ensembl	rs1801086
geneview	rs1801086
scholar	rs1801086
google	rs1801086
pharmgkb	rs1801086
gwascentral	rs1801086
openSNP	rs1801086
23andMe	rs1801086
SNPshot	rs1801086
SNPdbe	rs1801086
MSV3d	rs1801086
GWAS Ctlg	rs1801086

Max Magnitude

3

aka c.742G>C (p.Gly248Arg) and also c.742G>A (p.Gly248Arg); both are pathogenic

23andMe name for c.742G>A: i3002484

ClinVar
Risk	rs1801086(A;A) rs1801086(C;C) rs1801086(T;T)
Alt	rs1801086(A;A) rs1801086(C;C) rs1801086(T;T)
Reference	Rs1801086(G;G)
Significance	Other
Disease	Malignant hyperthermia not provided
Variation	info
Gene	RYR1
CLNDBN	Malignant hyperthermia, susceptibility to, 1 not provided
Reversed	0
HGVS	NC_000019.9:g.38937350G>A; NC_000019.9:g.38937350G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013831.2, RCV000119713.1, RCV000119714.2,

[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.

[PMID 18564801] Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.