rs386134230
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | cystic fibrosis carrier (most likely) |
| (G;G) | 0 | common in clinvar |
| Make rs386134230(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117606674 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386134230 |
| dbSNP (classic) | rs386134230 |
| ClinGen | rs386134230 |
| ebi | rs386134230 |
| HLI | rs386134230 |
| Exac | rs386134230 |
| Gnomad | rs386134230 |
| Varsome | rs386134230 |
| LitVar | rs386134230 |
| Map | rs386134230 |
| PheGenI | rs386134230 |
| Biobank | rs386134230 |
| 1000 genomes | rs386134230 |
| hgdp | rs386134230 |
| ensembl | rs386134230 |
| geneview | rs386134230 |
| scholar | rs386134230 |
| rs386134230 | |
| pharmgkb | rs386134230 |
| gwascentral | rs386134230 |
| openSNP | rs386134230 |
| 23andMe | rs386134230 |
| SNPshot | rs386134230 |
| SNPdbe | rs386134230 |
| MSV3d | rs386134230 |
| GWAS Ctlg | rs386134230 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs386134230(A;A) |
| Alt | rs386134230(A;A) |
| Reference | Rs386134230(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117246728G>A |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000046718.3, |
