rs112901682
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
Make rs112901682(C;T) |
Make rs112901682(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 88948816 |
Gene | ACTA2 |
is a | snp |
is | mentioned by |
dbSNP | rs112901682 |
dbSNP (classic) | rs112901682 |
ClinGen | rs112901682 |
ebi | rs112901682 |
HLI | rs112901682 |
Exac | rs112901682 |
Gnomad | rs112901682 |
Varsome | rs112901682 |
LitVar | rs112901682 |
Map | rs112901682 |
PheGenI | rs112901682 |
Biobank | rs112901682 |
1000 genomes | rs112901682 |
hgdp | rs112901682 |
ensembl | rs112901682 |
geneview | rs112901682 |
scholar | rs112901682 |
rs112901682 | |
pharmgkb | rs112901682 |
gwascentral | rs112901682 |
openSNP | rs112901682 |
23andMe | rs112901682 |
SNPshot | rs112901682 |
SNPdbe | rs112901682 |
MSV3d | rs112901682 |
GWAS Ctlg | rs112901682 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs112901682(G;G) rs112901682(T;T) |
Alt | rs112901682(G;G) rs112901682(T;T) |
Reference | Rs112901682(C;C) |
Significance | Pathogenic |
Disease | Aortic aneurysm Thoracic aortic aneurysm and aortic dissection not provided |
Variation | info |
Gene | ACTA2 STAMBPL1 |
CLNDBN | Aortic aneurysm, familial thoracic 6 Thoracic aortic aneurysm and aortic dissection not provided |
Reversed | 1 |
HGVS | NC_000010.10:g.90708573G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000055647.27, RCV000143866.1, RCV000490091.1, |