rs213950
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | very slight (1.1x) increase in type-1 diabetes risk | |
| (A;G) | very slight (1.1x) increase in type-1 diabetes risk | |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117559479 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs213950 |
| dbSNP (classic) | rs213950 |
| ClinGen | rs213950 |
| ebi | rs213950 |
| HLI | rs213950 |
| Exac | rs213950 |
| Gnomad | rs213950 |
| Varsome | rs213950 |
| LitVar | rs213950 |
| Map | rs213950 |
| PheGenI | rs213950 |
| Biobank | rs213950 |
| 1000 genomes | rs213950 |
| hgdp | rs213950 |
| ensembl | rs213950 |
| geneview | rs213950 |
| scholar | rs213950 |
| rs213950 | |
| pharmgkb | rs213950 |
| gwascentral | rs213950 |
| openSNP | rs213950 |
| 23andMe | rs213950 |
| SNPshot | rs213950 |
| SNPdbe | rs213950 |
| MSV3d | rs213950 |
| GWAS Ctlg | rs213950 |
| GMAF | 0.4605 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs213950, a SNP in the cystic fibrosis CFTR gene (but not one that is linked to cystic fibrosis), has been reported in a large study to be associated with type-1 diabetes.
In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 1.09 (CI 1.04–1.15). [PMID 17554260
]
[PMID 19728845] Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene
[PMID 20116881] Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk
[PMID 22740931] Association of CFTR gene polymorphisms with papillary thyroid cancer
| ClinVar | |
|---|---|
| Risk | Rs213950(A;A) |
| Alt | Rs213950(A;A) |
| Reference | Rs213950(G;G) |
| Significance | Other |
| Disease | Hereditary pancreatitis not specified Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Hereditary pancreatitis not specified Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117199533G\x3d; NC_000007.13:g.117199533G>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000119035.2, RCV000152994.2, RCV000007550.3, RCV000036517.10, |
[PMID 16436643] A haplotype framework for cystic fibrosis mutations in Iran.
[PMID 18716917] A novel computational and structural analysis of nsSNPs in CFTR gene.
[PMID 19359276] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
