rs886040965
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
Make rs886040965(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 5 |
Position | 122075443 |
Gene | LOX, SRFBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs886040965 |
dbSNP (classic) | rs886040965 |
ClinGen | rs886040965 |
ebi | rs886040965 |
HLI | rs886040965 |
Exac | rs886040965 |
Gnomad | rs886040965 |
Varsome | rs886040965 |
LitVar | rs886040965 |
Map | rs886040965 |
PheGenI | rs886040965 |
Biobank | rs886040965 |
1000 genomes | rs886040965 |
hgdp | rs886040965 |
ensembl | rs886040965 |
geneview | rs886040965 |
scholar | rs886040965 |
rs886040965 | |
pharmgkb | rs886040965 |
gwascentral | rs886040965 |
openSNP | rs886040965 |
23andMe | rs886040965 |
SNPshot | rs886040965 |
SNPdbe | rs886040965 |
MSV3d | rs886040965 |
GWAS Ctlg | rs886040965 |
Max Magnitude | 6.5 |
aka c.839G>T (p.Ser280Ile)
ClinVar | |
---|---|
Risk | rs886040965(T;T) |
Alt | rs886040965(T;T) |
Reference | Rs886040965(G;G) |
Significance | Pathogenic |
Disease | Aortic aneurysm |
Variation | info |
Gene | LOX |
CLNDBN | Aortic aneurysm, familial thoracic 10 |
Reversed | 1 |
HGVS | NC_000005.9:g.121411138C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000258025.1, |