rs199422132
From SNPedia
| Merged into | rs199422131 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199422132(-;-) |
| Make rs199422132(-;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 197146361 |
| Gene | ASPM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199422132 |
| dbSNP (classic) | rs199422132 |
| ClinGen | rs199422132 |
| ebi | rs199422132 |
| HLI | rs199422132 |
| Exac | rs199422132 |
| Gnomad | rs199422132 |
| Varsome | rs199422132 |
| LitVar | rs199422132 |
| Map | rs199422132 |
| PheGenI | rs199422132 |
| Biobank | rs199422132 |
| 1000 genomes | rs199422132 |
| hgdp | rs199422132 |
| ensembl | rs199422132 |
| geneview | rs199422132 |
| scholar | rs199422132 |
| rs199422132 | |
| pharmgkb | rs199422132 |
| gwascentral | rs199422132 |
| openSNP | rs199422132 |
| 23andMe | rs199422132 |
| SNPshot | rs199422132 |
| SNPdbe | rs199422132 |
| MSV3d | rs199422132 |
| GWAS Ctlg | rs199422132 |
| Status | Merged into rs199422131 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs199422132(G;G) |
| Significance | Pathogenic |
| Disease | Primary autosomal recessive microcephaly 5 |
| Variation | info |
| Gene | ASPM |
| CLNDBN | Primary autosomal recessive microcephaly 5 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.197115491delC |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020797.3, |
