rs201831933
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201831933(A;T) |
Make rs201831933(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 15726915 |
Gene | MYH11 |
is a | snp |
is | mentioned by |
dbSNP | rs201831933 |
dbSNP (classic) | rs201831933 |
ClinGen | rs201831933 |
ebi | rs201831933 |
HLI | rs201831933 |
Exac | rs201831933 |
Gnomad | rs201831933 |
Varsome | rs201831933 |
LitVar | rs201831933 |
Map | rs201831933 |
PheGenI | rs201831933 |
Biobank | rs201831933 |
1000 genomes | rs201831933 |
hgdp | rs201831933 |
ensembl | rs201831933 |
geneview | rs201831933 |
scholar | rs201831933 |
rs201831933 | |
pharmgkb | rs201831933 |
gwascentral | rs201831933 |
openSNP | rs201831933 |
23andMe | rs201831933 |
SNPshot | rs201831933 |
SNPdbe | rs201831933 |
MSV3d | rs201831933 |
GWAS Ctlg | rs201831933 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201831933(G;G) rs201831933(T;T) |
Alt | rs201831933(G;G) rs201831933(T;T) |
Reference | Rs201831933(A;A) |
Significance | Pathogenic |
Disease | Aortic aneurysm not provided Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | MYH11 |
CLNDBN | Aortic aneurysm, familial thoracic 4 not provided Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000016.9:g.15820772A>G |
CLNSRC | ClinVar GTR |
CLNACC | RCV000144438.1, RCV000182510.2, RCV000243616.1, |