rs76151804
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 4 | cystic fibrosis carrier |
| Make rs76151804(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117611555 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76151804 |
| dbSNP (classic) | rs76151804 |
| ClinGen | rs76151804 |
| ebi | rs76151804 |
| HLI | rs76151804 |
| Exac | rs76151804 |
| Gnomad | rs76151804 |
| Varsome | rs76151804 |
| LitVar | rs76151804 |
| Map | rs76151804 |
| PheGenI | rs76151804 |
| Biobank | rs76151804 |
| 1000 genomes | rs76151804 |
| hgdp | rs76151804 |
| ensembl | rs76151804 |
| geneview | rs76151804 |
| scholar | rs76151804 |
| rs76151804 | |
| pharmgkb | rs76151804 |
| gwascentral | rs76151804 |
| openSNP | rs76151804 |
| 23andMe | rs76151804 |
| SNPshot | rs76151804 |
| SNPdbe | rs76151804 |
| MSV3d | rs76151804 |
| GWAS Ctlg | rs76151804 |
| Max Magnitude | 4 |
rs76151804, also known as 3272-26A->G and 3140-26A>G, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.
23andMe refers to this SNP as i5011792 and i5053854.
FTDNA & MyHeritage name: VG07S45132
| ClinVar | |
|---|---|
| Risk | rs76151804(G;G) |
| Alt | rs76151804(G;G) |
| Reference | Rs76151804(A;A) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117251609A>G |
| CLNSRC | CFTR2 |
| CLNACC | RCV000029519.5, |
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 750841] Anthropometric estimation of body density, fat, and lean body weight in women gymnasts.
[PMID 1379210] Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
[PMID 11022925] Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis.
[PMID 11168023] The molecular basis of cystic fibrosis in South Africa.
[PMID 12955726] CFTR genotypes in patients with normal or borderline sweat chloride levels.
[PMID 16051530] Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
