rs749497185
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CT) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(CT;CT) | 0 | common in clinvar |
Make rs749497185(-;-) |
Make rs749497185(-;TC) |
Make rs749497185(TC;TC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 15741512 |
Gene | MYH11 |
is a | snp |
is | mentioned by |
dbSNP | rs749497185 |
dbSNP (classic) | rs749497185 |
ClinGen | rs749497185 |
ebi | rs749497185 |
HLI | rs749497185 |
Exac | rs749497185 |
Gnomad | rs749497185 |
Varsome | rs749497185 |
LitVar | rs749497185 |
Map | rs749497185 |
PheGenI | rs749497185 |
Biobank | rs749497185 |
1000 genomes | rs749497185 |
hgdp | rs749497185 |
ensembl | rs749497185 |
geneview | rs749497185 |
scholar | rs749497185 |
rs749497185 | |
pharmgkb | rs749497185 |
gwascentral | rs749497185 |
openSNP | rs749497185 |
23andMe | rs749497185 |
SNPshot | rs749497185 |
SNPdbe | rs749497185 |
MSV3d | rs749497185 |
GWAS Ctlg | rs749497185 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs749497185(-;-) |
Alt | rs749497185(-;-) |
Reference | Rs749497185(CT;CT) |
Significance | Pathogenic |
Disease | Aortic aneurysm |
Variation | info |
Gene | MYH11 |
CLNDBN | Aortic aneurysm, familial thoracic 4 |
Reversed | 0 |
HGVS | NC_000016.9:g.15835369_15835370delCT |
CLNSRC | |
CLNACC | RCV000193616.1, |