rs397516683
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516683(C;T) |
Make rs397516683(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 88941820 |
Gene | ACTA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516683 |
dbSNP (classic) | rs397516683 |
ClinGen | rs397516683 |
ebi | rs397516683 |
HLI | rs397516683 |
Exac | rs397516683 |
Gnomad | rs397516683 |
Varsome | rs397516683 |
LitVar | rs397516683 |
Map | rs397516683 |
PheGenI | rs397516683 |
Biobank | rs397516683 |
1000 genomes | rs397516683 |
hgdp | rs397516683 |
ensembl | rs397516683 |
geneview | rs397516683 |
scholar | rs397516683 |
rs397516683 | |
pharmgkb | rs397516683 |
gwascentral | rs397516683 |
openSNP | rs397516683 |
23andMe | rs397516683 |
SNPshot | rs397516683 |
SNPdbe | rs397516683 |
MSV3d | rs397516683 |
GWAS Ctlg | rs397516683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516683(T;T) |
Alt | rs397516683(T;T) |
Reference | Rs397516683(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Thoracic aortic aneurysm and aortic dissection not provided |
Variation | info |
Gene | ACTA2 STAMBPL1 |
CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection not provided |
Reversed | 1 |
HGVS | NC_000010.10:g.90701577G>A |
CLNSRC | |
CLNACC | RCV000037195.2, RCV000157091.3, RCV000211885.1, |