rs1800098
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 3 | unaffected carrier of an allele associated with vas deferens condition? |
| (G;G) | 0 | common in clinvar |
| Make rs1800098(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117590400 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800098 |
| dbSNP (classic) | rs1800098 |
| ClinGen | rs1800098 |
| ebi | rs1800098 |
| HLI | rs1800098 |
| Exac | rs1800098 |
| Gnomad | rs1800098 |
| Varsome | rs1800098 |
| LitVar | rs1800098 |
| Map | rs1800098 |
| PheGenI | rs1800098 |
| Biobank | rs1800098 |
| 1000 genomes | rs1800098 |
| hgdp | rs1800098 |
| ensembl | rs1800098 |
| geneview | rs1800098 |
| scholar | rs1800098 |
| rs1800098 | |
| pharmgkb | rs1800098 |
| gwascentral | rs1800098 |
| openSNP | rs1800098 |
| 23andMe | rs1800098 |
| SNPshot | rs1800098 |
| SNPdbe | rs1800098 |
| MSV3d | rs1800098 |
| GWAS Ctlg | rs1800098 |
| GMAF | 0.003673 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs1800098(C;C) rs1800098(T;T) |
| Alt | rs1800098(C;C) rs1800098(T;T) |
| Reference | Rs1800098(G;G) |
| Significance | Other |
| Disease | Congenital bilateral absence of the vas deferens Cystic fibrosis not provided not specified |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Congenital bilateral absence of the vas deferens Cystic fibrosis not provided not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117230454G>C |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007585.2, RCV000029486.5, RCV000078981.6, RCV000155472.3, |
[PMID 18716917
] A novel computational and structural analysis of nsSNPs in CFTR gene.
[PMID 108758] Psychologic vulnerability in epileptic patients.
[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 10653141] Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.
[PMID 12127423] Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.
[PMID 15705292] Molecular pathology of the CFTR locus in male infertility.
[PMID 15880796] Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
