rs75961395
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Cystic fibrosis allele (carrier) |
| (G;G) | 0 | common in clinvar |
| Make rs75961395(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117509123 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75961395 |
| dbSNP (classic) | rs75961395 |
| ClinGen | rs75961395 |
| ebi | rs75961395 |
| HLI | rs75961395 |
| Exac | rs75961395 |
| Gnomad | rs75961395 |
| Varsome | rs75961395 |
| LitVar | rs75961395 |
| Map | rs75961395 |
| PheGenI | rs75961395 |
| Biobank | rs75961395 |
| 1000 genomes | rs75961395 |
| hgdp | rs75961395 |
| ensembl | rs75961395 |
| geneview | rs75961395 |
| scholar | rs75961395 |
| rs75961395 | |
| pharmgkb | rs75961395 |
| gwascentral | rs75961395 |
| openSNP | rs75961395 |
| 23andMe | rs75961395 |
| SNPshot | rs75961395 |
| SNPdbe | rs75961395 |
| MSV3d | rs75961395 |
| GWAS Ctlg | rs75961395 |
| Max Magnitude | 3 |
Cystic fibrosis; c.254G>A, G85E or Gly85Glu
named i4000294 by 23andMe
FTDNA & MyHeritage name: VG07S29458
| ClinVar | |
|---|---|
| Risk | rs75961395(A;A) rs75961395(T;T) |
| Alt | rs75961395(A;A) rs75961395(T;T) |
| Reference | Rs75961395(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not provided |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117149177G>A; NC_000007.13:g.117149177G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007563.8, RCV000224170.1, RCV000046617.2, |
