rs143570767
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | cystic fibrosis carrier |
| (G;G) | 0 | common in clinvar |
| Make rs143570767(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117642594 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143570767 |
| dbSNP (classic) | rs143570767 |
| ClinGen | rs143570767 |
| ebi | rs143570767 |
| HLI | rs143570767 |
| Exac | rs143570767 |
| Gnomad | rs143570767 |
| Varsome | rs143570767 |
| LitVar | rs143570767 |
| Map | rs143570767 |
| PheGenI | rs143570767 |
| Biobank | rs143570767 |
| 1000 genomes | rs143570767 |
| hgdp | rs143570767 |
| ensembl | rs143570767 |
| geneview | rs143570767 |
| scholar | rs143570767 |
| rs143570767 | |
| pharmgkb | rs143570767 |
| gwascentral | rs143570767 |
| openSNP | rs143570767 |
| 23andMe | rs143570767 |
| SNPshot | rs143570767 |
| SNPdbe | rs143570767 |
| MSV3d | rs143570767 |
| GWAS Ctlg | rs143570767 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3873+1G>A
| ClinVar | |
|---|---|
| Risk | rs143570767(A;A) |
| Alt | rs143570767(A;A) |
| Reference | Rs143570767(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117282648G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007580.5, |
