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.