rs113857788
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 3 | cystic fibrosis carrier |
| (G;G) | 0 | common in clinvar |
| Make rs113857788(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117664780 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113857788 |
| dbSNP (classic) | rs113857788 |
| ClinGen | rs113857788 |
| ebi | rs113857788 |
| HLI | rs113857788 |
| Exac | rs113857788 |
| Gnomad | rs113857788 |
| Varsome | rs113857788 |
| LitVar | rs113857788 |
| Map | rs113857788 |
| PheGenI | rs113857788 |
| Biobank | rs113857788 |
| 1000 genomes | rs113857788 |
| hgdp | rs113857788 |
| ensembl | rs113857788 |
| geneview | rs113857788 |
| scholar | rs113857788 |
| rs113857788 | |
| pharmgkb | rs113857788 |
| gwascentral | rs113857788 |
| openSNP | rs113857788 |
| 23andMe | rs113857788 |
| SNPshot | rs113857788 |
| SNPdbe | rs113857788 |
| MSV3d | rs113857788 |
| GWAS Ctlg | rs113857788 |
| GMAF | 0.003673 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs113857788(C;C) rs113857788(T;T) |
| Alt | rs113857788(C;C) rs113857788(T;T) |
| Reference | Rs113857788(G;G) |
| Significance | Other |
| Disease | Cystic fibrosis not specified Congenital bilateral absence of the vas deferens |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not specified Congenital bilateral absence of the vas deferens |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117304834G>C; NC_000007.13:g.117304834G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007659.7, RCV000401835.1, RCV000029537.1, |
[PMID 12952] Studies on 3-deoxy-D-arabinoheptulosonate-7-phosphate synthetase(phe)from Escherichia coli K12. 2. Kinetic properties.
[PMID 16596947] Spectrum of CFTR mutations on Reunion Island: impact on neonatal screening.
[PMID 16678503] Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.
[PMID 17003641] Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
[PMID 17329263] Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
[PMID 18304229] Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.
