rs28940884
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (T;T) | 0 |
| Make rs28940884(A;G) |
| Make rs28940884(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 23796722 |
| Gene | GALE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940884 |
| dbSNP (classic) | rs28940884 |
| ClinGen | rs28940884 |
| ebi | rs28940884 |
| HLI | rs28940884 |
| Exac | rs28940884 |
| Gnomad | rs28940884 |
| Varsome | rs28940884 |
| LitVar | rs28940884 |
| Map | rs28940884 |
| PheGenI | rs28940884 |
| Biobank | rs28940884 |
| 1000 genomes | rs28940884 |
| hgdp | rs28940884 |
| ensembl | rs28940884 |
| geneview | rs28940884 |
| scholar | rs28940884 |
| rs28940884 | |
| pharmgkb | rs28940884 |
| gwascentral | rs28940884 |
| openSNP | rs28940884 |
| 23andMe | rs28940884 |
| SNPshot | rs28940884 |
| SNPdbe | rs28940884 |
| MSV3d | rs28940884 |
| GWAS Ctlg | rs28940884 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs28940884(G;G) |
| Alt | rs28940884(G;G) |
| Reference | Rs28940884(A;A) |
| Significance | Other |
| Disease | UDPglucose-4-epimerase deficiency not provided |
| Variation | info |
| Gene | GALE |
| CLNDBN | UDPglucose-4-epimerase deficiency not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.24123212T>C |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003864.5, RCV000259041.1, |
