rs387906378
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;TCAA) | 3 | carrier of a cystic fibrosis allele |
| Make rs387906378(TCAA;TCAA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117627588 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906378 |
| dbSNP (classic) | rs387906378 |
| ClinGen | rs387906378 |
| ebi | rs387906378 |
| HLI | rs387906378 |
| Exac | rs387906378 |
| Gnomad | rs387906378 |
| Varsome | rs387906378 |
| LitVar | rs387906378 |
| Map | rs387906378 |
| PheGenI | rs387906378 |
| Biobank | rs387906378 |
| 1000 genomes | rs387906378 |
| hgdp | rs387906378 |
| ensembl | rs387906378 |
| geneview | rs387906378 |
| scholar | rs387906378 |
| rs387906378 | |
| pharmgkb | rs387906378 |
| gwascentral | rs387906378 |
| openSNP | rs387906378 |
| 23andMe | rs387906378 |
| SNPshot | rs387906378 |
| SNPdbe | rs387906378 |
| MSV3d | rs387906378 |
| GWAS Ctlg | rs387906378 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3535_3536insTCAA, p.Thr1179Ilefs
named i5011943 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs387906378(TCAA;TCAA) |
| Alt | rs387906378(TCAA;TCAA) |
| Reference | Rs387906378(-;-) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117267639_117267642dupTCAA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007643.2, |
