rs78194216
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | cystic fibrosis carrier |
| Make rs78194216(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117611637 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78194216 |
| dbSNP (classic) | rs78194216 |
| ClinGen | rs78194216 |
| ebi | rs78194216 |
| HLI | rs78194216 |
| Exac | rs78194216 |
| Gnomad | rs78194216 |
| Varsome | rs78194216 |
| LitVar | rs78194216 |
| Map | rs78194216 |
| PheGenI | rs78194216 |
| Biobank | rs78194216 |
| 1000 genomes | rs78194216 |
| hgdp | rs78194216 |
| ensembl | rs78194216 |
| geneview | rs78194216 |
| scholar | rs78194216 |
| rs78194216 | |
| pharmgkb | rs78194216 |
| gwascentral | rs78194216 |
| openSNP | rs78194216 |
| 23andMe | rs78194216 |
| SNPshot | rs78194216 |
| SNPdbe | rs78194216 |
| MSV3d | rs78194216 |
| GWAS Ctlg | rs78194216 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3196C>T, p.Arg1066Cys
named i5006085, i5053836 and i6008913 by 23andMe
FTDNA & MyHeritage name: VG07S29391
| ClinVar | |
|---|---|
| Risk | rs78194216(A;A) rs78194216(T;T) |
| Alt | rs78194216(A;A) rs78194216(T;T) |
| Reference | Rs78194216(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117251691C>A; NC_000007.13:g.117251691C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000046813.2, RCV000007582.5, |
