rs202179988
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 rs202179988(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117611649 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202179988 |
| dbSNP (classic) | rs202179988 |
| ClinGen | rs202179988 |
| ebi | rs202179988 |
| HLI | rs202179988 |
| Exac | rs202179988 |
| Gnomad | rs202179988 |
| Varsome | rs202179988 |
| LitVar | rs202179988 |
| Map | rs202179988 |
| PheGenI | rs202179988 |
| Biobank | rs202179988 |
| 1000 genomes | rs202179988 |
| hgdp | rs202179988 |
| ensembl | rs202179988 |
| geneview | rs202179988 |
| scholar | rs202179988 |
| rs202179988 | |
| pharmgkb | rs202179988 |
| gwascentral | rs202179988 |
| openSNP | rs202179988 |
| 23andMe | rs202179988 |
| SNPshot | rs202179988 |
| SNPdbe | rs202179988 |
| MSV3d | rs202179988 |
| GWAS Ctlg | rs202179988 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3208C>T, p.Arg1070Trp
named i5011826 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs202179988(T;T) |
| Alt | rs202179988(T;T) |
| Reference | Rs202179988(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis Congenital bilateral absence of the vas deferens |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Congenital bilateral absence of the vas deferens |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117251703C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000046824.2, RCV000219441.1, |
