rs730880100
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Marfan syndrome mutation |
(G;G) | 0 | common in clinvar |
Make rs730880100(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 48488445 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs730880100 |
dbSNP (classic) | rs730880100 |
ClinGen | rs730880100 |
ebi | rs730880100 |
HLI | rs730880100 |
Exac | rs730880100 |
Gnomad | rs730880100 |
Varsome | rs730880100 |
LitVar | rs730880100 |
Map | rs730880100 |
PheGenI | rs730880100 |
Biobank | rs730880100 |
1000 genomes | rs730880100 |
hgdp | rs730880100 |
ensembl | rs730880100 |
geneview | rs730880100 |
scholar | rs730880100 |
rs730880100 | |
pharmgkb | rs730880100 |
gwascentral | rs730880100 |
openSNP | rs730880100 |
23andMe | rs730880100 |
SNPshot | rs730880100 |
SNPdbe | rs730880100 |
MSV3d | rs730880100 |
GWAS Ctlg | rs730880100 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs730880100(A;A) |
Alt | rs730880100(A;A) |
Reference | Rs730880100(G;G) |
Significance | Probable-Pathogenic |
Disease | Marfan syndrome |
Variation | info |
Gene | FBN1 |
CLNDBN | Marfan syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.48780642C>T |
CLNSRC | |
CLNACC | RCV000157226.1, |