rs397514037
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(G;G) | 0 | common in clinvar |
(G;T) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
Make rs397514037(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 15721421 |
Gene | MYH11, NDE1 |
is a | snp |
is | mentioned by |
dbSNP | rs397514037 |
dbSNP (classic) | rs397514037 |
ClinGen | rs397514037 |
ebi | rs397514037 |
HLI | rs397514037 |
Exac | rs397514037 |
Gnomad | rs397514037 |
Varsome | rs397514037 |
LitVar | rs397514037 |
Map | rs397514037 |
PheGenI | rs397514037 |
Biobank | rs397514037 |
1000 genomes | rs397514037 |
hgdp | rs397514037 |
ensembl | rs397514037 |
geneview | rs397514037 |
scholar | rs397514037 |
rs397514037 | |
pharmgkb | rs397514037 |
gwascentral | rs397514037 |
openSNP | rs397514037 |
23andMe | rs397514037 |
SNPshot | rs397514037 |
SNPdbe | rs397514037 |
MSV3d | rs397514037 |
GWAS Ctlg | rs397514037 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs397514037(A;A) rs397514037(T;T) |
Alt | rs397514037(A;A) rs397514037(T;T) |
Reference | Rs397514037(G;G) |
Significance | Pathogenic |
Disease | Aortic aneurysm not provided |
Variation | info |
Gene | NDE1 MYH11 |
CLNDBN | Aortic aneurysm, familial thoracic 4 not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.15815278C>A; NC_000016.9:g.15815278C>T |
CLNSRC | ClinVar |
CLNACC | RCV000015192.25, RCV000412872.1, |