rs886044692
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Chromosome | 9 |
Position | 116698251 |
Gene | ASTN2, TRIM32 |
is a | snp |
is | mentioned by |
dbSNP | rs886044692 |
dbSNP (classic) | rs886044692 |
ClinGen | rs886044692 |
ebi | rs886044692 |
HLI | rs886044692 |
Exac | rs886044692 |
Gnomad | rs886044692 |
Varsome | rs886044692 |
LitVar | rs886044692 |
Map | rs886044692 |
PheGenI | rs886044692 |
Biobank | rs886044692 |
1000 genomes | rs886044692 |
hgdp | rs886044692 |
ensembl | rs886044692 |
geneview | rs886044692 |
scholar | rs886044692 |
rs886044692 | |
pharmgkb | rs886044692 |
gwascentral | rs886044692 |
openSNP | rs886044692 |
23andMe | rs886044692 |
SNPshot | rs886044692 |
SNPdbe | rs886044692 |
MSV3d | rs886044692 |
GWAS Ctlg | rs886044692 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044692(A;A) |
Alt | rs886044692(A;A) |
Reference | Rs886044692(T;T) |
Significance | Pathogenic |
Disease | Sarcotubular myopathy |
Variation | info |
Gene | TRIM32 ASTN2 |
CLNDBN | Sarcotubular myopathy |
Reversed | 0 |
HGVS | NC_000009.11:g.119460530T>A |
CLNSRC | |
CLNACC | RCV000354711.1, |