rs548296552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs548296552(A;A) |
Make rs548296552(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48490007 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs548296552 |
dbSNP (classic) | rs548296552 |
ClinGen | rs548296552 |
ebi | rs548296552 |
HLI | rs548296552 |
Exac | rs548296552 |
Gnomad | rs548296552 |
Varsome | rs548296552 |
LitVar | rs548296552 |
Map | rs548296552 |
PheGenI | rs548296552 |
Biobank | rs548296552 |
1000 genomes | rs548296552 |
hgdp | rs548296552 |
ensembl | rs548296552 |
geneview | rs548296552 |
scholar | rs548296552 |
rs548296552 | |
pharmgkb | rs548296552 |
gwascentral | rs548296552 |
openSNP | rs548296552 |
23andMe | rs548296552 |
SNPshot | rs548296552 |
SNPdbe | rs548296552 |
MSV3d | rs548296552 |
GWAS Ctlg | rs548296552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs548296552(A;A) |
Alt | rs548296552(A;A) |
Reference | Rs548296552(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.48782204G>A |
CLNSRC | |
CLNACC | RCV000181470.2, |