rs2564921
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2564921(A;G) |
| Make rs2564921(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 53091569 |
| Gene | RFT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2564921 |
| dbSNP (classic) | rs2564921 |
| ClinGen | rs2564921 |
| ebi | rs2564921 |
| HLI | rs2564921 |
| Exac | rs2564921 |
| Gnomad | rs2564921 |
| Varsome | rs2564921 |
| LitVar | rs2564921 |
| Map | rs2564921 |
| PheGenI | rs2564921 |
| Biobank | rs2564921 |
| 1000 genomes | rs2564921 |
| hgdp | rs2564921 |
| ensembl | rs2564921 |
| geneview | rs2564921 |
| scholar | rs2564921 |
| rs2564921 | |
| pharmgkb | rs2564921 |
| gwascentral | rs2564921 |
| openSNP | rs2564921 |
| 23andMe | rs2564921 |
| SNPshot | rs2564921 |
| SNPdbe | rs2564921 |
| MSV3d | rs2564921 |
| GWAS Ctlg | rs2564921 |
| GMAF | 0.455 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 23563607 ]
|
| Trait | Height |
| Title | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. |
| Risk Allele | T |
| P-val | 2E-12 |
| Odds Ratio | 1.15 [NR] |
| ClinVar | |
|---|---|
| Risk | rs2564921(G;G) |
| Alt | rs2564921(G;G) |
| Reference | Rs2564921(A;A) |
| Significance | Non-pathogenic |
| Disease | Congenital disorder of glycosylation |
| Variation | info |
| Gene | RFT1 |
| CLNDBN | Congenital disorder of glycosylation |
| Reversed | 1 |
| HGVS | NC_000003.11:g.53125585T>C |
| CLNSRC | |
| CLNACC | RCV000365605.1, |
