rs25403
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs25403(C;T) |
Make rs25403(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 48613073 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs25403 |
dbSNP (classic) | rs25403 |
ClinGen | rs25403 |
ebi | rs25403 |
HLI | rs25403 |
Exac | rs25403 |
Gnomad | rs25403 |
Varsome | rs25403 |
LitVar | rs25403 |
Map | rs25403 |
PheGenI | rs25403 |
Biobank | rs25403 |
1000 genomes | rs25403 |
hgdp | rs25403 |
ensembl | rs25403 |
geneview | rs25403 |
scholar | rs25403 |
rs25403 | |
pharmgkb | rs25403 |
gwascentral | rs25403 |
openSNP | rs25403 |
23andMe | rs25403 |
SNPshot | rs25403 |
SNPdbe | rs25403 |
MSV3d | rs25403 |
GWAS Ctlg | rs25403 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs25403(T;T) |
Alt | rs25403(T;T) |
Reference | Rs25403(C;C) |
Significance | Pathogenic |
Disease | Marfan syndrome not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.48905270G>A |
CLNSRC | ClinVar |
CLNACC | RCV000035129.2, RCV000493952.1, |