rs528069912
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs528069912(-;-) |
| Make rs528069912(-;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 108898938 |
| Gene | GPSM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs528069912 |
| dbSNP (classic) | rs528069912 |
| ClinGen | rs528069912 |
| ebi | rs528069912 |
| HLI | rs528069912 |
| Exac | rs528069912 |
| Gnomad | rs528069912 |
| Varsome | rs528069912 |
| LitVar | rs528069912 |
| Map | rs528069912 |
| PheGenI | rs528069912 |
| Biobank | rs528069912 |
| 1000 genomes | rs528069912 |
| hgdp | rs528069912 |
| ensembl | rs528069912 |
| geneview | rs528069912 |
| scholar | rs528069912 |
| rs528069912 | |
| pharmgkb | rs528069912 |
| gwascentral | rs528069912 |
| openSNP | rs528069912 |
| 23andMe | rs528069912 |
| SNPshot | rs528069912 |
| SNPdbe | rs528069912 |
| MSV3d | rs528069912 |
| GWAS Ctlg | rs528069912 |
| Merged from | Rs794726687 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs528069912(-;-) |
| Alt | rs528069912(-;-) |
| Reference | Rs528069912(C;C) |
| Significance | Pathogenic |
| Disease | Chudley-McCullough syndrome not provided |
| Variation | info |
| Gene | GPSM2 |
| CLNDBN | Chudley-McCullough syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.109441561delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000029164.4, RCV000223985.1, |
