rs111404182
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111404182(C;T) |
Make rs111404182(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 15750191 |
Gene | MYH11 |
is a | snp |
is | mentioned by |
dbSNP | rs111404182 |
dbSNP (classic) | rs111404182 |
ClinGen | rs111404182 |
ebi | rs111404182 |
HLI | rs111404182 |
Exac | rs111404182 |
Gnomad | rs111404182 |
Varsome | rs111404182 |
LitVar | rs111404182 |
Map | rs111404182 |
PheGenI | rs111404182 |
Biobank | rs111404182 |
1000 genomes | rs111404182 |
hgdp | rs111404182 |
ensembl | rs111404182 |
geneview | rs111404182 |
scholar | rs111404182 |
rs111404182 | |
pharmgkb | rs111404182 |
gwascentral | rs111404182 |
openSNP | rs111404182 |
23andMe | rs111404182 |
SNPshot | rs111404182 |
SNPdbe | rs111404182 |
MSV3d | rs111404182 |
GWAS Ctlg | rs111404182 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111404182(A;A) rs111404182(T;T) |
Alt | rs111404182(A;A) rs111404182(T;T) |
Reference | Rs111404182(C;C) |
Significance | Pathogenic |
Disease | Aortic aneurysm Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | MYH11 |
CLNDBN | Aortic aneurysm, familial thoracic 4 Thoracic aortic aneurysm and aortic dissection |
Reversed | 1 |
HGVS | NC_000016.9:g.15844048G>A |
CLNSRC | |
CLNACC | RCV000148694.2, RCV000252564.1, |