rs397516685
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516685(A;A) |
Make rs397516685(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 88939680 |
Gene | ACTA2, ACTA2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs397516685 |
dbSNP (classic) | rs397516685 |
ClinGen | rs397516685 |
ebi | rs397516685 |
HLI | rs397516685 |
Exac | rs397516685 |
Gnomad | rs397516685 |
Varsome | rs397516685 |
LitVar | rs397516685 |
Map | rs397516685 |
PheGenI | rs397516685 |
Biobank | rs397516685 |
1000 genomes | rs397516685 |
hgdp | rs397516685 |
ensembl | rs397516685 |
geneview | rs397516685 |
scholar | rs397516685 |
rs397516685 | |
pharmgkb | rs397516685 |
gwascentral | rs397516685 |
openSNP | rs397516685 |
23andMe | rs397516685 |
SNPshot | rs397516685 |
SNPdbe | rs397516685 |
MSV3d | rs397516685 |
GWAS Ctlg | rs397516685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516685(A;A) |
Alt | rs397516685(A;A) |
Reference | Rs397516685(G;G) |
Significance | Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection not provided |
Variation | info |
Gene | ACTA2 STAMBPL1 ACTA2-AS1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection not provided |
Reversed | 1 |
HGVS | NC_000010.10:g.90699437C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000181024.2, RCV000211887.1, |