rs75389940
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | carrier of a cystic fibrosis allele |
| Make rs75389940(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 117627753 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75389940 |
| dbSNP (classic) | rs75389940 |
| ClinGen | rs75389940 |
| ebi | rs75389940 |
| HLI | rs75389940 |
| Exac | rs75389940 |
| Gnomad | rs75389940 |
| Varsome | rs75389940 |
| LitVar | rs75389940 |
| Map | rs75389940 |
| PheGenI | rs75389940 |
| Biobank | rs75389940 |
| 1000 genomes | rs75389940 |
| hgdp | rs75389940 |
| ensembl | rs75389940 |
| geneview | rs75389940 |
| scholar | rs75389940 |
| rs75389940 | |
| pharmgkb | rs75389940 |
| gwascentral | rs75389940 |
| openSNP | rs75389940 |
| 23andMe | rs75389940 |
| SNPshot | rs75389940 |
| SNPdbe | rs75389940 |
| MSV3d | rs75389940 |
| GWAS Ctlg | rs75389940 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3700A>G, p.Ile1234Val (note former minus strand orientation in dbSNP; later, appears to have been flipped to forward at some point by dbSNP); considered of unknown significance by CFTR2 database, but listed as pathogenic in ClinVar according to two submitters
named i5011976, i5006121 and i5053843 by 23andMe?
FTDNA & MyHeritage name: VG07S29435
| ClinVar | |
|---|---|
| Risk | rs75389940(G;G) |
| Alt | rs75389940(G;G) |
| Reference | Rs75389940(A;A) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117267807A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007636.3, |
