rs746521543
From SNPedia
| Merged into | rs397508189 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs746521543(-;AGAT) |
| Make rs746521543(AGAT;AGAT) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 117548756 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs746521543 |
| dbSNP (classic) | rs746521543 |
| ClinGen | rs746521543 |
| ebi | rs746521543 |
| HLI | rs746521543 |
| Exac | rs746521543 |
| Gnomad | rs746521543 |
| Varsome | rs746521543 |
| LitVar | rs746521543 |
| Map | rs746521543 |
| PheGenI | rs746521543 |
| Biobank | rs746521543 |
| 1000 genomes | rs746521543 |
| hgdp | rs746521543 |
| ensembl | rs746521543 |
| geneview | rs746521543 |
| scholar | rs746521543 |
| rs746521543 | |
| pharmgkb | rs746521543 |
| gwascentral | rs746521543 |
| openSNP | rs746521543 |
| 23andMe | rs746521543 |
| SNPshot | rs746521543 |
| SNPdbe | rs746521543 |
| MSV3d | rs746521543 |
| GWAS Ctlg | rs746521543 |
| Status | Merged into rs397508189 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs746521543(AGAT;AGAT) |
| Alt | rs746521543(AGAT;AGAT) |
| Reference | Rs746521543(;) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not provided |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117188812_117188815dupGATA |
| CLNSRC | CFTR2 |
| CLNACC | RCV000169333.1, RCV000224712.1, |
