rs118192184
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | can be associated with central core disease |
Make rs118192184(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38585036 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs118192184 |
dbSNP (classic) | rs118192184 |
ClinGen | rs118192184 |
ebi | rs118192184 |
HLI | rs118192184 |
Exac | rs118192184 |
Gnomad | rs118192184 |
Varsome | rs118192184 |
LitVar | rs118192184 |
Map | rs118192184 |
PheGenI | rs118192184 |
Biobank | rs118192184 |
1000 genomes | rs118192184 |
hgdp | rs118192184 |
ensembl | rs118192184 |
geneview | rs118192184 |
scholar | rs118192184 |
rs118192184 | |
pharmgkb | rs118192184 |
gwascentral | rs118192184 |
openSNP | rs118192184 |
23andMe | rs118192184 |
SNPshot | rs118192184 |
SNPdbe | rs118192184 |
MSV3d | rs118192184 |
GWAS Ctlg | rs118192184 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs118192184(G;G) |
Alt | rs118192184(G;G) |
Reference | Rs118192184(A;A) |
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.39075676A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056237.1, RCV000119556.1, |
[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 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.