rs76702162
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs76702162(A;A) |
Make rs76702162(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48437009 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs76702162 |
dbSNP (classic) | rs76702162 |
ClinGen | rs76702162 |
ebi | rs76702162 |
HLI | rs76702162 |
Exac | rs76702162 |
Gnomad | rs76702162 |
Varsome | rs76702162 |
LitVar | rs76702162 |
Map | rs76702162 |
PheGenI | rs76702162 |
Biobank | rs76702162 |
1000 genomes | rs76702162 |
hgdp | rs76702162 |
ensembl | rs76702162 |
geneview | rs76702162 |
scholar | rs76702162 |
rs76702162 | |
pharmgkb | rs76702162 |
gwascentral | rs76702162 |
openSNP | rs76702162 |
23andMe | rs76702162 |
SNPshot | rs76702162 |
SNPdbe | rs76702162 |
MSV3d | rs76702162 |
GWAS Ctlg | rs76702162 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76702162(A;A) |
Alt | rs76702162(A;A) |
Reference | Rs76702162(G;G) |
Significance | Pathogenic |
Disease | not specified Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | FBN1 |
CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.48729206G>A |
CLNSRC | |
CLNACC | RCV000181567.2, RCV000246337.1, |