rs1801086
From SNPedia
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 |
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.