rs587780273
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Miscall in Ancestry v2c data; otherwise, Baraitser-Winter syndrome-1 |
| (G;G) | 0 | common in clinvar |
| Make rs587780273(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 7 |
| Position | 5529594 |
| Gene | ACTB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587780273 |
| dbSNP (classic) | rs587780273 |
| ClinGen | rs587780273 |
| ebi | rs587780273 |
| HLI | rs587780273 |
| Exac | rs587780273 |
| Gnomad | rs587780273 |
| Varsome | rs587780273 |
| LitVar | rs587780273 |
| Map | rs587780273 |
| PheGenI | rs587780273 |
| Biobank | rs587780273 |
| 1000 genomes | rs587780273 |
| hgdp | rs587780273 |
| ensembl | rs587780273 |
| geneview | rs587780273 |
| scholar | rs587780273 |
| rs587780273 | |
| pharmgkb | rs587780273 |
| gwascentral | rs587780273 |
| openSNP | rs587780273 |
| 23andMe | rs587780273 |
| SNPshot | rs587780273 |
| SNPdbe | rs587780273 |
| MSV3d | rs587780273 |
| GWAS Ctlg | rs587780273 |
| Max Magnitude | 6 |
aka c.64G>A (p.Ala22Thr or A22T)
| ClinVar | |
|---|---|
| Risk | Rs587780273(A;A) |
| Alt | Rs587780273(A;A) |
| Reference | Rs587780273(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Baraitser-Winter syndrome 1 |
| Variation | info |
| Gene | ACTB |
| CLNDBN | Baraitser-Winter syndrome 1 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.5569225C>T |
| CLNSRC | |
| CLNACC | RCV000116223.1, |
