rs78756941
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Cystic Fibrosis carrier |
| Make rs78756941(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117531115 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78756941 |
| dbSNP (classic) | rs78756941 |
| ClinGen | rs78756941 |
| ebi | rs78756941 |
| HLI | rs78756941 |
| Exac | rs78756941 |
| Gnomad | rs78756941 |
| Varsome | rs78756941 |
| LitVar | rs78756941 |
| Map | rs78756941 |
| PheGenI | rs78756941 |
| Biobank | rs78756941 |
| 1000 genomes | rs78756941 |
| hgdp | rs78756941 |
| ensembl | rs78756941 |
| geneview | rs78756941 |
| scholar | rs78756941 |
| rs78756941 | |
| pharmgkb | rs78756941 |
| gwascentral | rs78756941 |
| openSNP | rs78756941 |
| 23andMe | rs78756941 |
| SNPshot | rs78756941 |
| SNPdbe | rs78756941 |
| MSV3d | rs78756941 |
| GWAS Ctlg | rs78756941 |
| Max Magnitude | 3 |
rs78756941, also known as 621+1G>T or 489+1G>T, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.
23andMe has at least three terms in use for rs78756941: i4000314, i5010909 and i6056291.
FTDNA & MyHeritage name: VG07S44961
| ClinVar | |
|---|---|
| Risk | rs78756941(T;T) |
| Alt | rs78756941(T;T) |
| Reference | Rs78756941(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117171169G>T |
| CLNSRC | CFTR2 Cystic Fibrosis Mutation Database |
| CLNACC | RCV000043565.8, RCV000360769.1, |
[PMID 1536179] Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 15371902
] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
