rs1060500773
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCACA;CCACA) | 0 | common in clinvar |
Make rs1060500773(-;-) |
Make rs1060500773(-;CACAC) |
Make rs1060500773(CACAC;CACAC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 67165279 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs1060500773 |
dbSNP (classic) | rs1060500773 |
ClinGen | rs1060500773 |
ebi | rs1060500773 |
HLI | rs1060500773 |
Exac | rs1060500773 |
Gnomad | rs1060500773 |
Varsome | rs1060500773 |
LitVar | rs1060500773 |
Map | rs1060500773 |
PheGenI | rs1060500773 |
Biobank | rs1060500773 |
1000 genomes | rs1060500773 |
hgdp | rs1060500773 |
ensembl | rs1060500773 |
geneview | rs1060500773 |
scholar | rs1060500773 |
rs1060500773 | |
pharmgkb | rs1060500773 |
gwascentral | rs1060500773 |
openSNP | rs1060500773 |
23andMe | rs1060500773 |
SNPshot | rs1060500773 |
SNPdbe | rs1060500773 |
MSV3d | rs1060500773 |
GWAS Ctlg | rs1060500773 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500773(-;-) |
Alt | rs1060500773(-;-) |
Reference | Rs1060500773(CCACA;CCACA) |
Significance | Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | SMAD3 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.67457617_67457621delCACAC |
CLNSRC | |
CLNACC | RCV000464246.1, |