rs112289537
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs112289537(-;-) |
Make rs112289537(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 48516299 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs112289537 |
dbSNP (classic) | rs112289537 |
ClinGen | rs112289537 |
ebi | rs112289537 |
HLI | rs112289537 |
Exac | rs112289537 |
Gnomad | rs112289537 |
Varsome | rs112289537 |
LitVar | rs112289537 |
Map | rs112289537 |
PheGenI | rs112289537 |
Biobank | rs112289537 |
1000 genomes | rs112289537 |
hgdp | rs112289537 |
ensembl | rs112289537 |
geneview | rs112289537 |
scholar | rs112289537 |
rs112289537 | |
pharmgkb | rs112289537 |
gwascentral | rs112289537 |
openSNP | rs112289537 |
23andMe | rs112289537 |
SNPshot | rs112289537 |
SNPdbe | rs112289537 |
MSV3d | rs112289537 |
GWAS Ctlg | rs112289537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112289537(-;-) |
Alt | rs112289537(-;-) |
Reference | Rs112289537(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.48808496delG |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029693.1, RCV000414055.1, |