rs727505300
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TG;TG) | 0 | common in clinvar |
| Make rs727505300(-;-) |
| Make rs727505300(-;TG) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 108898003 |
| Gene | GPSM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727505300 |
| dbSNP (classic) | rs727505300 |
| ClinGen | rs727505300 |
| ebi | rs727505300 |
| HLI | rs727505300 |
| Exac | rs727505300 |
| Gnomad | rs727505300 |
| Varsome | rs727505300 |
| LitVar | rs727505300 |
| Map | rs727505300 |
| PheGenI | rs727505300 |
| Biobank | rs727505300 |
| 1000 genomes | rs727505300 |
| hgdp | rs727505300 |
| ensembl | rs727505300 |
| geneview | rs727505300 |
| scholar | rs727505300 |
| rs727505300 | |
| pharmgkb | rs727505300 |
| gwascentral | rs727505300 |
| openSNP | rs727505300 |
| 23andMe | rs727505300 |
| SNPshot | rs727505300 |
| SNPdbe | rs727505300 |
| MSV3d | rs727505300 |
| GWAS Ctlg | rs727505300 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727505300(-;-) |
| Alt | rs727505300(-;-) |
| Reference | Rs727505300(TG;TG) |
| Significance | Pathogenic |
| Disease | Chudley-McCullough syndrome |
| Variation | info |
| Gene | GPSM2 |
| CLNDBN | Chudley-McCullough syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.109440625_109440626delTG |
| CLNSRC | |
| CLNACC | RCV000156837.1, |
