rs757106110
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
Make rs757106110(A;A) |
Make rs757106110(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 67187457 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs757106110 |
dbSNP (classic) | rs757106110 |
ClinGen | rs757106110 |
ebi | rs757106110 |
HLI | rs757106110 |
Exac | rs757106110 |
Gnomad | rs757106110 |
Varsome | rs757106110 |
LitVar | rs757106110 |
Map | rs757106110 |
PheGenI | rs757106110 |
Biobank | rs757106110 |
1000 genomes | rs757106110 |
hgdp | rs757106110 |
ensembl | rs757106110 |
geneview | rs757106110 |
scholar | rs757106110 |
rs757106110 | |
pharmgkb | rs757106110 |
gwascentral | rs757106110 |
openSNP | rs757106110 |
23andMe | rs757106110 |
SNPshot | rs757106110 |
SNPdbe | rs757106110 |
MSV3d | rs757106110 |
GWAS Ctlg | rs757106110 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs757106110(A;A) rs757106110(T;T) |
Alt | rs757106110(A;A) rs757106110(T;T) |
Reference | Rs757106110(C;C) |
Significance | Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome not specified not provided |
Variation | info |
Gene | SMAD3 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome not specified not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.67479795C>A; NC_000015.9:g.67479795C>T |
CLNSRC | |
CLNACC | RCV000245579.2, RCV000407831.1, RCV000443084.1, RCV000478284.1, |