rs148519623
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 3 | cystic fibrosis carrier (most likely) |
| (T;T) | 0 | common/normal |
| Make rs148519623(G;G) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 7 |
| Position | 117536598 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148519623 |
| dbSNP (classic) | rs148519623 |
| ClinGen | rs148519623 |
| ebi | rs148519623 |
| HLI | rs148519623 |
| Exac | rs148519623 |
| Gnomad | rs148519623 |
| Varsome | rs148519623 |
| LitVar | rs148519623 |
| Map | rs148519623 |
| PheGenI | rs148519623 |
| Biobank | rs148519623 |
| 1000 genomes | rs148519623 |
| hgdp | rs148519623 |
| ensembl | rs148519623 |
| geneview | rs148519623 |
| scholar | rs148519623 |
| rs148519623 | |
| pharmgkb | rs148519623 |
| gwascentral | rs148519623 |
| openSNP | rs148519623 |
| 23andMe | rs148519623 |
| SNPshot | rs148519623 |
| SNPdbe | rs148519623 |
| MSV3d | rs148519623 |
| GWAS Ctlg | rs148519623 |
| Max Magnitude | 3 |
aka c.794T>G, p.Met265Arg and M265R
In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 19.1% of wild-type CFTR activity.[PMID 29805046
]
