rs139304906
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | cystic fibrosis carrier |
| (T;T) | 0 | common in clinvar |
| Make rs139304906(C;C) |
| Chromosome | 7 |
| Position | 117611671 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139304906 |
| dbSNP (classic) | rs139304906 |
| ClinGen | rs139304906 |
| ebi | rs139304906 |
| HLI | rs139304906 |
| Exac | rs139304906 |
| Gnomad | rs139304906 |
| Varsome | rs139304906 |
| LitVar | rs139304906 |
| Map | rs139304906 |
| PheGenI | rs139304906 |
| Biobank | rs139304906 |
| 1000 genomes | rs139304906 |
| hgdp | rs139304906 |
| ensembl | rs139304906 |
| geneview | rs139304906 |
| scholar | rs139304906 |
| rs139304906 | |
| pharmgkb | rs139304906 |
| gwascentral | rs139304906 |
| openSNP | rs139304906 |
| 23andMe | rs139304906 |
| SNPshot | rs139304906 |
| SNPdbe | rs139304906 |
| MSV3d | rs139304906 |
| GWAS Ctlg | rs139304906 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3230T>C, p.Leu1077Pro
named i5011836 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs139304906(C;C) |
| Alt | rs139304906(C;C) |
| Reference | Rs139304906(T;T) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117251725T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000056377.3, |
