rs151073129
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | cystic fibrosis carrier (most likely) |
| Make rs151073129(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117536657 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151073129 |
| dbSNP (classic) | rs151073129 |
| ClinGen | rs151073129 |
| ebi | rs151073129 |
| HLI | rs151073129 |
| Exac | rs151073129 |
| Gnomad | rs151073129 |
| Varsome | rs151073129 |
| LitVar | rs151073129 |
| Map | rs151073129 |
| PheGenI | rs151073129 |
| Biobank | rs151073129 |
| 1000 genomes | rs151073129 |
| hgdp | rs151073129 |
| ensembl | rs151073129 |
| geneview | rs151073129 |
| scholar | rs151073129 |
| rs151073129 | |
| pharmgkb | rs151073129 |
| gwascentral | rs151073129 |
| openSNP | rs151073129 |
| 23andMe | rs151073129 |
| SNPshot | rs151073129 |
| SNPdbe | rs151073129 |
| MSV3d | rs151073129 |
| GWAS Ctlg | rs151073129 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs151073129(T;T) |
| Alt | rs151073129(T;T) |
| Reference | Rs151073129(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117176711A>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029547.2, |
[PMID 16362824] Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
