rs118192183
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | can be associated with central core disease |
(G;G) | 0 | common in clinvar |
Make rs118192183(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38584992 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs118192183 |
dbSNP (classic) | rs118192183 |
ClinGen | rs118192183 |
ebi | rs118192183 |
HLI | rs118192183 |
Exac | rs118192183 |
Gnomad | rs118192183 |
Varsome | rs118192183 |
LitVar | rs118192183 |
Map | rs118192183 |
PheGenI | rs118192183 |
Biobank | rs118192183 |
1000 genomes | rs118192183 |
hgdp | rs118192183 |
ensembl | rs118192183 |
geneview | rs118192183 |
scholar | rs118192183 |
rs118192183 | |
pharmgkb | rs118192183 |
gwascentral | rs118192183 |
openSNP | rs118192183 |
23andMe | rs118192183 |
SNPshot | rs118192183 |
SNPdbe | rs118192183 |
MSV3d | rs118192183 |
GWAS Ctlg | rs118192183 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs118192183(A;A) |
Alt | rs118192183(A;A) |
Reference | Rs118192183(G;G) |
Significance | Pathogenic |
Disease | Central core disease not provided |
Variation | info |
Gene | RYR1 |
CLNDBN | Central core disease not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.39075632G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056195.1, RCV000119554.1, |
[PMID 11709545] Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.