rs1800123
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | cystic fibrosis carrier |
| Make rs1800123(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117627712 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800123 |
| dbSNP (classic) | rs1800123 |
| ClinGen | rs1800123 |
| ebi | rs1800123 |
| HLI | rs1800123 |
| Exac | rs1800123 |
| Gnomad | rs1800123 |
| Varsome | rs1800123 |
| LitVar | rs1800123 |
| Map | rs1800123 |
| PheGenI | rs1800123 |
| Biobank | rs1800123 |
| 1000 genomes | rs1800123 |
| hgdp | rs1800123 |
| ensembl | rs1800123 |
| geneview | rs1800123 |
| scholar | rs1800123 |
| rs1800123 | |
| pharmgkb | rs1800123 |
| gwascentral | rs1800123 |
| openSNP | rs1800123 |
| 23andMe | rs1800123 |
| SNPshot | rs1800123 |
| SNPdbe | rs1800123 |
| MSV3d | rs1800123 |
| GWAS Ctlg | rs1800123 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3659C>T, p,Thr1220Ile
named i5011969 and i3002449 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs1800123(T;T) |
| Alt | rs1800123(T;T) |
| Reference | Rs1800123(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117267766C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007635.2, |
[PMID 18716917
] A novel computational and structural analysis of nsSNPs in CFTR gene.
