rs8046180
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs8046180(A;A) |
Make rs8046180(A;C) |
Make rs8046180(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 15721599 |
Gene | MYH11, NDE1 |
is a | snp |
is | mentioned by |
dbSNP | rs8046180 |
dbSNP (classic) | rs8046180 |
ClinGen | rs8046180 |
ebi | rs8046180 |
HLI | rs8046180 |
Exac | rs8046180 |
Gnomad | rs8046180 |
Varsome | rs8046180 |
LitVar | rs8046180 |
Map | rs8046180 |
PheGenI | rs8046180 |
Biobank | rs8046180 |
1000 genomes | rs8046180 |
hgdp | rs8046180 |
ensembl | rs8046180 |
geneview | rs8046180 |
scholar | rs8046180 |
rs8046180 | |
pharmgkb | rs8046180 |
gwascentral | rs8046180 |
openSNP | rs8046180 |
23andMe | rs8046180 |
SNPshot | rs8046180 |
SNPdbe | rs8046180 |
MSV3d | rs8046180 |
GWAS Ctlg | rs8046180 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs8046180(A;A) rs8046180(C;C) |
Alt | rs8046180(A;A) rs8046180(C;C) |
Reference | Rs8046180(G;G) |
Significance | Other |
Disease | not specified Aortic aneurysm Thoracic aortic aneurysm and aortic dissection Lissencephaly |
Variation | info |
Gene | NDE1 MYH11 |
CLNDBN | not specified Aortic aneurysm, familial thoracic 4 Thoracic aortic aneurysm and aortic dissection Lissencephaly, Recessive |
Reversed | 0 |
HGVS | NC_000016.9:g.15815456G>A |
CLNSRC | |
CLNACC | RCV000126951.3, RCV000229335.2, RCV000247892.2, RCV000322004.1, |