rs930557
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs930557(C;C) |
| Make rs930557(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 6444662 |
| Gene | MCPH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs930557 |
| dbSNP (classic) | rs930557 |
| ClinGen | rs930557 |
| ebi | rs930557 |
| HLI | rs930557 |
| Exac | rs930557 |
| Gnomad | rs930557 |
| Varsome | rs930557 |
| LitVar | rs930557 |
| Map | rs930557 |
| PheGenI | rs930557 |
| Biobank | rs930557 |
| 1000 genomes | rs930557 |
| hgdp | rs930557 |
| ensembl | rs930557 |
| geneview | rs930557 |
| scholar | rs930557 |
| rs930557 | |
| pharmgkb | rs930557 |
| gwascentral | rs930557 |
| openSNP | rs930557 |
| 23andMe | rs930557 |
| SNPshot | rs930557 |
| SNPdbe | rs930557 |
| MSV3d | rs930557 |
| GWAS Ctlg | rs930557 |
| GMAF | 0.3163 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22529908
] The Derived Allele of ASPM Is Associated with Lexical Tone Perception
| ClinVar | |
|---|---|
| Risk | rs930557(C;C) |
| Alt | rs930557(C;C) |
| Reference | Rs930557(G;G) |
| Significance | Other |
| Disease | Primary autosomal recessive microcephaly 1 not specified Primary Microcephaly |
| Variation | info |
| Gene | MCPH1 |
| CLNDBN | Primary autosomal recessive microcephaly 1 not specified Primary Microcephaly, Recessive |
| Reversed | 0 |
| HGVS | NC_000008.10:g.6302183G>C |
| CLNSRC | ClinVar GeneReviews University of Chicago |
| CLNACC | RCV000020903.1, RCV000146337.2, RCV000353105.1, |
[PMID 19687126] A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.
[PMID 20080800] Sex-dependent association of common variants of microcephaly genes with brain structure.
