rs199422147
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CAAA;CAAA) | 0 | common in clinvar |
| Make rs199422147(-;-) |
| Make rs199422147(-;CAAA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 197139831 |
| Gene | ASPM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199422147 |
| dbSNP (classic) | rs199422147 |
| ClinGen | rs199422147 |
| ebi | rs199422147 |
| HLI | rs199422147 |
| Exac | rs199422147 |
| Gnomad | rs199422147 |
| Varsome | rs199422147 |
| LitVar | rs199422147 |
| Map | rs199422147 |
| PheGenI | rs199422147 |
| Biobank | rs199422147 |
| 1000 genomes | rs199422147 |
| hgdp | rs199422147 |
| ensembl | rs199422147 |
| geneview | rs199422147 |
| scholar | rs199422147 |
| rs199422147 | |
| pharmgkb | rs199422147 |
| gwascentral | rs199422147 |
| openSNP | rs199422147 |
| 23andMe | rs199422147 |
| SNPshot | rs199422147 |
| SNPdbe | rs199422147 |
| MSV3d | rs199422147 |
| GWAS Ctlg | rs199422147 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199422147(-;-) |
| Alt | rs199422147(-;-) |
| Reference | Rs199422147(CAAA;CAAA) |
| Significance | Pathogenic |
| Disease | Primary autosomal recessive microcephaly 5 not provided |
| Variation | info |
| Gene | ASPM |
| CLNDBN | Primary autosomal recessive microcephaly 5 not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.197108961_197108964delTTTG |
| CLNSRC | ClinVar GeneReviews University of Chicago |
| CLNACC | RCV000020750.2, RCV000215743.1, |
