rs587781220
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Likely miscall if from Ancestry v2 or LivingDNA data, and now probably 23andMe v5 data also; otherwise, Angelmann mutation |
| Make rs587781220(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 25354402 |
| Gene | UBE3A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587781220 |
| dbSNP (classic) | rs587781220 |
| ClinGen | rs587781220 |
| ebi | rs587781220 |
| HLI | rs587781220 |
| Exac | rs587781220 |
| Gnomad | rs587781220 |
| Varsome | rs587781220 |
| LitVar | rs587781220 |
| Map | rs587781220 |
| PheGenI | rs587781220 |
| Biobank | rs587781220 |
| 1000 genomes | rs587781220 |
| hgdp | rs587781220 |
| ensembl | rs587781220 |
| geneview | rs587781220 |
| scholar | rs587781220 |
| rs587781220 | |
| pharmgkb | rs587781220 |
| gwascentral | rs587781220 |
| openSNP | rs587781220 |
| 23andMe | rs587781220 |
| SNPshot | rs587781220 |
| SNPdbe | rs587781220 |
| MSV3d | rs587781220 |
| GWAS Ctlg | rs587781220 |
| Max Magnitude | 3 |
aka c.2245G>T (p.Glu749Ter or E749X)
| ClinVar | |
|---|---|
| Risk | rs587781220(T;T) |
| Alt | rs587781220(T;T) |
| Reference | Rs587781220(G;G) |
| Significance | Pathogenic |
| Disease | Angelman syndrome |
| Variation | info |
| Gene | UBE3A |
| CLNDBN | Angelman syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.25599549C>A |
| CLNSRC | |
| CLNACC | RCV000144294.2, |
