rs2278619
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2278619(C;C) |
| Make rs2278619(C;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 80109927 |
| Gene | GAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2278619 |
| dbSNP (classic) | rs2278619 |
| ClinGen | rs2278619 |
| ebi | rs2278619 |
| HLI | rs2278619 |
| Exac | rs2278619 |
| Gnomad | rs2278619 |
| Varsome | rs2278619 |
| LitVar | rs2278619 |
| Map | rs2278619 |
| PheGenI | rs2278619 |
| Biobank | rs2278619 |
| 1000 genomes | rs2278619 |
| hgdp | rs2278619 |
| ensembl | rs2278619 |
| geneview | rs2278619 |
| scholar | rs2278619 |
| rs2278619 | |
| pharmgkb | rs2278619 |
| gwascentral | rs2278619 |
| openSNP | rs2278619 |
| 23andMe | rs2278619 |
| SNPshot | rs2278619 |
| SNPdbe | rs2278619 |
| MSV3d | rs2278619 |
| GWAS Ctlg | rs2278619 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2278619(C;C) |
| Alt | rs2278619(C;C) |
| Reference | Rs2278619(T;T) |
| Significance | Other |
| Disease | not specified |
| Variation | info |
| Gene | GAA |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000017.10:g.78083726A>G |
| CLNSRC | |
| CLNACC | RCV000078156.5, |
