rs118192167
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(A;G) | 3 | susceptibility to malignant hyperthermia |
Make rs118192167(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38580004 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs118192167 |
dbSNP (classic) | rs118192167 |
ClinGen | rs118192167 |
ebi | rs118192167 |
HLI | rs118192167 |
Exac | rs118192167 |
Gnomad | rs118192167 |
Varsome | rs118192167 |
LitVar | rs118192167 |
Map | rs118192167 |
PheGenI | rs118192167 |
Biobank | rs118192167 |
1000 genomes | rs118192167 |
hgdp | rs118192167 |
ensembl | rs118192167 |
geneview | rs118192167 |
scholar | rs118192167 |
rs118192167 | |
pharmgkb | rs118192167 |
gwascentral | rs118192167 |
openSNP | rs118192167 |
23andMe | rs118192167 |
SNPshot | rs118192167 |
SNPdbe | rs118192167 |
MSV3d | rs118192167 |
GWAS Ctlg | rs118192167 |
Max Magnitude | 3 |
aka c.14387A>G (p.Tyr4796Cys or Y4796C)
23andMe name: i5000022
ClinVar | |
---|---|
Risk | rs118192167(G;G) |
Alt | rs118192167(G;G) |
Reference | Rs118192167(A;A) |
Significance | Other |
Disease | Central core disease Malignant hyperthermia not provided |
Variation | info |
Gene | RYR1 |
CLNDBN | Central core disease Malignant hyperthermia, susceptibility to, 1 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.39070644A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013848.18, RCV000013849.2, RCV000119509.1, |
[PMID 11063719] An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
[PMID 17204937] Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.