rs193922204
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922204(A;A) |
| Make rs193922204(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 48468542 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922204 |
| dbSNP (classic) | rs193922204 |
| ClinGen | rs193922204 |
| ebi | rs193922204 |
| HLI | rs193922204 |
| Exac | rs193922204 |
| Gnomad | rs193922204 |
| Varsome | rs193922204 |
| LitVar | rs193922204 |
| Map | rs193922204 |
| PheGenI | rs193922204 |
| Biobank | rs193922204 |
| 1000 genomes | rs193922204 |
| hgdp | rs193922204 |
| ensembl | rs193922204 |
| geneview | rs193922204 |
| scholar | rs193922204 |
| rs193922204 | |
| pharmgkb | rs193922204 |
| gwascentral | rs193922204 |
| openSNP | rs193922204 |
| 23andMe | rs193922204 |
| SNPshot | rs193922204 |
| SNPdbe | rs193922204 |
| MSV3d | rs193922204 |
| GWAS Ctlg | rs193922204 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922204(A;A) |
| Alt | rs193922204(A;A) |
| Reference | Rs193922204(G;G) |
| Significance | Other |
| Disease | Marfan syndrome not provided |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48760739C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000029737.1, RCV000429823.1, |
[PMID 11700157] Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
[PMID 15241795] Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
