rs143456784
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | cystic fibrosis carrier (most likely) |
| Make rs143456784(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117504324 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143456784 |
| dbSNP (classic) | rs143456784 |
| ClinGen | rs143456784 |
| ebi | rs143456784 |
| HLI | rs143456784 |
| Exac | rs143456784 |
| Gnomad | rs143456784 |
| Varsome | rs143456784 |
| LitVar | rs143456784 |
| Map | rs143456784 |
| PheGenI | rs143456784 |
| Biobank | rs143456784 |
| 1000 genomes | rs143456784 |
| hgdp | rs143456784 |
| ensembl | rs143456784 |
| geneview | rs143456784 |
| scholar | rs143456784 |
| rs143456784 | |
| pharmgkb | rs143456784 |
| gwascentral | rs143456784 |
| openSNP | rs143456784 |
| 23andMe | rs143456784 |
| SNPshot | rs143456784 |
| SNPdbe | rs143456784 |
| MSV3d | rs143456784 |
| GWAS Ctlg | rs143456784 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs143456784(T;T) |
| Alt | rs143456784(T;T) |
| Reference | Rs143456784(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Cystic fibrosis not specified |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117144378C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000029472.2, RCV000380824.1, |
[PMID 75415] Lung-cancer mortality of workers making chrome pigments.
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 15084222
] Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
[PMID 16126774] Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
[PMID 16801189] Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.
[PMID 19885835] Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.
