rs372227120
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | carrier of a cystic fibrosis allele |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | cystic fibrosis carrier |
| Make rs372227120(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117665565 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs372227120 |
| dbSNP (classic) | rs372227120 |
| ClinGen | rs372227120 |
| ebi | rs372227120 |
| HLI | rs372227120 |
| Exac | rs372227120 |
| Gnomad | rs372227120 |
| Varsome | rs372227120 |
| LitVar | rs372227120 |
| Map | rs372227120 |
| PheGenI | rs372227120 |
| Biobank | rs372227120 |
| 1000 genomes | rs372227120 |
| hgdp | rs372227120 |
| ensembl | rs372227120 |
| geneview | rs372227120 |
| scholar | rs372227120 |
| rs372227120 | |
| pharmgkb | rs372227120 |
| gwascentral | rs372227120 |
| openSNP | rs372227120 |
| 23andMe | rs372227120 |
| SNPshot | rs372227120 |
| SNPdbe | rs372227120 |
| MSV3d | rs372227120 |
| GWAS Ctlg | rs372227120 |
| Max Magnitude | 3 |
Cystic fibrosis; c.4242+1G>T and c.4242+1G>A
c.4242+1G>T is named i5012169 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs372227120(A;A) rs372227120(T;T) |
| Alt | rs372227120(A;A) rs372227120(T;T) |
| Reference | Rs372227120(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117305619G>A; NC_000007.13:g.117305619G>T |
| CLNSRC | CFTR2 |
| CLNACC | RCV000047114.2, RCV000047115.4, |
