rs118192180
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | can be associated with central core disease |
Make rs118192180(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38580090 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs118192180 |
dbSNP (classic) | rs118192180 |
ClinGen | rs118192180 |
ebi | rs118192180 |
HLI | rs118192180 |
Exac | rs118192180 |
Gnomad | rs118192180 |
Varsome | rs118192180 |
LitVar | rs118192180 |
Map | rs118192180 |
PheGenI | rs118192180 |
Biobank | rs118192180 |
1000 genomes | rs118192180 |
hgdp | rs118192180 |
ensembl | rs118192180 |
geneview | rs118192180 |
scholar | rs118192180 |
rs118192180 | |
pharmgkb | rs118192180 |
gwascentral | rs118192180 |
openSNP | rs118192180 |
23andMe | rs118192180 |
SNPshot | rs118192180 |
SNPdbe | rs118192180 |
MSV3d | rs118192180 |
GWAS Ctlg | rs118192180 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs118192180(A;A) rs118192180(T;T) |
Alt | rs118192180(A;A) rs118192180(T;T) |
Reference | Rs118192180(C;C) |
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.39070730C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056232.1, RCV000119518.1, |
[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 17204937] Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.