rs75115087
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | carrier of a cystic fibrosis allele |
| Make rs75115087(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117592295 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75115087 |
| dbSNP (classic) | rs75115087 |
| ClinGen | rs75115087 |
| ebi | rs75115087 |
| HLI | rs75115087 |
| Exac | rs75115087 |
| Gnomad | rs75115087 |
| Varsome | rs75115087 |
| LitVar | rs75115087 |
| Map | rs75115087 |
| PheGenI | rs75115087 |
| Biobank | rs75115087 |
| 1000 genomes | rs75115087 |
| hgdp | rs75115087 |
| ensembl | rs75115087 |
| geneview | rs75115087 |
| scholar | rs75115087 |
| rs75115087 | |
| pharmgkb | rs75115087 |
| gwascentral | rs75115087 |
| openSNP | rs75115087 |
| 23andMe | rs75115087 |
| SNPshot | rs75115087 |
| SNPdbe | rs75115087 |
| MSV3d | rs75115087 |
| GWAS Ctlg | rs75115087 |
| Max Magnitude | 3 |
Cystic fibrosis; c.2128A>T, p.Lys710Ter
named i5006112 and i5053833 by 23andMe
FTDNA & MyHeritage name: VG07S29341
| ClinVar | |
|---|---|
| Risk | rs75115087(T;T) |
| Alt | rs75115087(T;T) |
| Reference | Rs75115087(A;A) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117232349A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007624.5, |
