rs147195031
From SNPedia
| Marfan syndrome for homozygous recessive |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 2 | Unaffected carrier of Marfan syndrome variant |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 48420780 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147195031 |
| dbSNP (classic) | rs147195031 |
| ClinGen | rs147195031 |
| ebi | rs147195031 |
| HLI | rs147195031 |
| Exac | rs147195031 |
| Gnomad | rs147195031 |
| Varsome | rs147195031 |
| LitVar | rs147195031 |
| Map | rs147195031 |
| PheGenI | rs147195031 |
| Biobank | rs147195031 |
| 1000 genomes | rs147195031 |
| hgdp | rs147195031 |
| ensembl | rs147195031 |
| geneview | rs147195031 |
| scholar | rs147195031 |
| rs147195031 | |
| pharmgkb | rs147195031 |
| gwascentral | rs147195031 |
| openSNP | rs147195031 |
| 23andMe | rs147195031 |
| SNPshot | rs147195031 |
| SNPdbe | rs147195031 |
| MSV3d | rs147195031 |
| GWAS Ctlg | rs147195031 |
| Max Magnitude | 2 |
| ClinVar | |
|---|---|
| Risk | Rs147195031(A;A) |
| Alt | Rs147195031(A;A) |
| Reference | Rs147195031(G;G) |
| Significance | Pathogenic |
| Disease | Marfan syndrome Marfan syndrome |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome Marfan syndrome, autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000015.9:g.48712977G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000029780.1, RCV000083258.4, |
A patient with two copies of the minor allele of this FBN1 gene SNP has been diagnosed as being a patient with Marfan Syndrome.[PMID 23278365]
See also: OMIM 134797.0068
