rs397508600
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | cystic fibrosis carrier (most likely) |
| Make rs397508600(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 7 |
| Position | 117642457 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508600 |
| dbSNP (classic) | rs397508600 |
| ClinGen | rs397508600 |
| ebi | rs397508600 |
| HLI | rs397508600 |
| Exac | rs397508600 |
| Gnomad | rs397508600 |
| Varsome | rs397508600 |
| LitVar | rs397508600 |
| Map | rs397508600 |
| PheGenI | rs397508600 |
| Biobank | rs397508600 |
| 1000 genomes | rs397508600 |
| hgdp | rs397508600 |
| ensembl | rs397508600 |
| geneview | rs397508600 |
| scholar | rs397508600 |
| rs397508600 | |
| pharmgkb | rs397508600 |
| gwascentral | rs397508600 |
| openSNP | rs397508600 |
| 23andMe | rs397508600 |
| SNPshot | rs397508600 |
| SNPdbe | rs397508600 |
| MSV3d | rs397508600 |
| GWAS Ctlg | rs397508600 |
| Max Magnitude | 3 |
aka c.3737C>T, p.Thr1246Ile or T1246I
In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 12.9% of wild-type CFTR activity.[PMID 29805046
]
