rs139456571
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139456571(A;A) |
Make rs139456571(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 43065269 |
Gene | CBS |
is a | snp |
is | mentioned by |
dbSNP | rs139456571 |
dbSNP (classic) | rs139456571 |
ClinGen | rs139456571 |
ebi | rs139456571 |
HLI | rs139456571 |
Exac | rs139456571 |
Gnomad | rs139456571 |
Varsome | rs139456571 |
LitVar | rs139456571 |
Map | rs139456571 |
PheGenI | rs139456571 |
Biobank | rs139456571 |
1000 genomes | rs139456571 |
hgdp | rs139456571 |
ensembl | rs139456571 |
geneview | rs139456571 |
scholar | rs139456571 |
rs139456571 | |
pharmgkb | rs139456571 |
gwascentral | rs139456571 |
openSNP | rs139456571 |
23andMe | rs139456571 |
SNPshot | rs139456571 |
SNPdbe | rs139456571 |
MSV3d | rs139456571 |
GWAS Ctlg | rs139456571 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139456571(A;A) |
Alt | rs139456571(A;A) |
Reference | Rs139456571(G;G) |
Significance | Probable-Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection not specified |
Variation | info |
Gene | CBSL CBS |
CLNDBN | Thoracic aortic aneurysm and aortic dissection not specified |
Reversed | 0 |
HGVS | NC_000021.8:g.44485379G>A |
CLNSRC | |
CLNACC | RCV000243693.1, RCV000265141.2, |