rs55928397
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | cystic fibrosis carrier (most likely) |
| Make rs55928397(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117590404 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs55928397 |
| dbSNP (classic) | rs55928397 |
| ClinGen | rs55928397 |
| ebi | rs55928397 |
| HLI | rs55928397 |
| Exac | rs55928397 |
| Gnomad | rs55928397 |
| Varsome | rs55928397 |
| LitVar | rs55928397 |
| Map | rs55928397 |
| PheGenI | rs55928397 |
| Biobank | rs55928397 |
| 1000 genomes | rs55928397 |
| hgdp | rs55928397 |
| ensembl | rs55928397 |
| geneview | rs55928397 |
| scholar | rs55928397 |
| rs55928397 | |
| pharmgkb | rs55928397 |
| gwascentral | rs55928397 |
| openSNP | rs55928397 |
| 23andMe | rs55928397 |
| SNPshot | rs55928397 |
| SNPdbe | rs55928397 |
| MSV3d | rs55928397 |
| GWAS Ctlg | rs55928397 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs55928397(T;T) |
| Alt | rs55928397(T;T) |
| Reference | Rs55928397(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117230458C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000029487.2, |
[PMID 15463919] Quantitative methods for the analysis of CFTR transcripts/splicing variants.
