rs367543057
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs367543057(A;A) |
Make rs367543057(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38517651 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs367543057 |
dbSNP (classic) | rs367543057 |
ClinGen | rs367543057 |
ebi | rs367543057 |
HLI | rs367543057 |
Exac | rs367543057 |
Gnomad | rs367543057 |
Varsome | rs367543057 |
LitVar | rs367543057 |
Map | rs367543057 |
PheGenI | rs367543057 |
Biobank | rs367543057 |
1000 genomes | rs367543057 |
hgdp | rs367543057 |
ensembl | rs367543057 |
geneview | rs367543057 |
scholar | rs367543057 |
rs367543057 | |
pharmgkb | rs367543057 |
gwascentral | rs367543057 |
openSNP | rs367543057 |
23andMe | rs367543057 |
SNPshot | rs367543057 |
SNPdbe | rs367543057 |
MSV3d | rs367543057 |
GWAS Ctlg | rs367543057 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367543057(A;A) |
Alt | rs367543057(A;A) |
Reference | Rs367543057(C;C) |
Significance | Pathogenic |
Disease | Congenital myopathy with fiber type disproportion |
Variation | info |
Gene | RYR1 |
CLNDBN | Congenital myopathy with fiber type disproportion |
Reversed | 0 |
HGVS | NC_000019.9:g.39008291C>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000034932.1, |
[PMID 20583297] Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.