rs794728198
From SNPedia
Merged into | rs112911555 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794728198(A;A) |
Make rs794728198(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48490072 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs794728198 |
dbSNP (classic) | rs794728198 |
ClinGen | rs794728198 |
ebi | rs794728198 |
HLI | rs794728198 |
Exac | rs794728198 |
Gnomad | rs794728198 |
Varsome | rs794728198 |
LitVar | rs794728198 |
Map | rs794728198 |
PheGenI | rs794728198 |
Biobank | rs794728198 |
1000 genomes | rs794728198 |
hgdp | rs794728198 |
ensembl | rs794728198 |
geneview | rs794728198 |
scholar | rs794728198 |
rs794728198 | |
pharmgkb | rs794728198 |
gwascentral | rs794728198 |
openSNP | rs794728198 |
23andMe | rs794728198 |
SNPshot | rs794728198 |
SNPdbe | rs794728198 |
MSV3d | rs794728198 |
GWAS Ctlg | rs794728198 |
Status | Merged into rs112911555 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728198(A;A) |
Alt | rs794728198(A;A) |
Reference | Rs794728198(G;G) |
Significance | Pathogenic |
Disease | not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection |
Reversed | 1 |
HGVS | NC_000015.9:g.48782269C>T |
CLNSRC | |
CLNACC | RCV000181469.1, RCV000208533.1, RCV000253911.1, |