rs755416052
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | carrier of a cystic fibrosis allele |
| Make rs755416052(A;T) |
| Make rs755416052(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 7 |
| Position | 117614611 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs755416052 |
| dbSNP (classic) | rs755416052 |
| ClinGen | rs755416052 |
| ebi | rs755416052 |
| HLI | rs755416052 |
| Exac | rs755416052 |
| Gnomad | rs755416052 |
| Varsome | rs755416052 |
| LitVar | rs755416052 |
| Map | rs755416052 |
| PheGenI | rs755416052 |
| Biobank | rs755416052 |
| 1000 genomes | rs755416052 |
| hgdp | rs755416052 |
| ensembl | rs755416052 |
| geneview | rs755416052 |
| scholar | rs755416052 |
| rs755416052 | |
| pharmgkb | rs755416052 |
| gwascentral | rs755416052 |
| openSNP | rs755416052 |
| 23andMe | rs755416052 |
| SNPshot | rs755416052 |
| SNPdbe | rs755416052 |
| MSV3d | rs755416052 |
| GWAS Ctlg | rs755416052 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs755416052(G;G) rs755416052(T;T) |
| Alt | rs755416052(G;G) rs755416052(T;T) |
| Reference | Rs755416052(A;A) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117254665A>G; NC_000007.13:g.117254665A>T |
| CLNSRC | CFTR2 |
| CLNACC | RCV000169111.2, RCV000409745.1, |
