rs150212784
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 3 | cystic fibrosis carrier (most likely) |
| (T;T) | 0 | common in clinvar |
| Make rs150212784(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117611595 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150212784 |
| dbSNP (classic) | rs150212784 |
| ClinGen | rs150212784 |
| ebi | rs150212784 |
| HLI | rs150212784 |
| Exac | rs150212784 |
| Gnomad | rs150212784 |
| Varsome | rs150212784 |
| LitVar | rs150212784 |
| Map | rs150212784 |
| PheGenI | rs150212784 |
| Biobank | rs150212784 |
| 1000 genomes | rs150212784 |
| hgdp | rs150212784 |
| ensembl | rs150212784 |
| geneview | rs150212784 |
| scholar | rs150212784 |
| rs150212784 | |
| pharmgkb | rs150212784 |
| gwascentral | rs150212784 |
| openSNP | rs150212784 |
| 23andMe | rs150212784 |
| SNPshot | rs150212784 |
| SNPdbe | rs150212784 |
| MSV3d | rs150212784 |
| GWAS Ctlg | rs150212784 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3154T>G, p.Phe1052Val; considered to be of varying clinical consequence
named i5011798 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs150212784(G;G) |
| Alt | rs150212784(G;G) |
| Reference | Rs150212784(T;T) |
| Significance | Other |
| Disease | Cystic fibrosis not provided |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117251649T>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000046799.4, RCV000224816.1, |
