rs4242182
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (T;T) | 0 | common in clinvar |
| Make rs4242182(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 174729165 |
| Gene | MSX2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4242182 |
| dbSNP (classic) | rs4242182 |
| ClinGen | rs4242182 |
| ebi | rs4242182 |
| HLI | rs4242182 |
| Exac | rs4242182 |
| Gnomad | rs4242182 |
| Varsome | rs4242182 |
| LitVar | rs4242182 |
| Map | rs4242182 |
| PheGenI | rs4242182 |
| Biobank | rs4242182 |
| 1000 genomes | rs4242182 |
| hgdp | rs4242182 |
| ensembl | rs4242182 |
| geneview | rs4242182 |
| scholar | rs4242182 |
| rs4242182 | |
| pharmgkb | rs4242182 |
| gwascentral | rs4242182 |
| openSNP | rs4242182 |
| 23andMe | rs4242182 |
| SNPshot | rs4242182 |
| SNPdbe | rs4242182 |
| MSV3d | rs4242182 |
| GWAS Ctlg | rs4242182 |
| GMAF | 0.2135 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 16319823
] Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
| ClinVar | |
|---|---|
| Risk | rs4242182(A;A) Rs4242182(C;C) rs4242182(G;G) |
| Alt | rs4242182(A;A) Rs4242182(C;C) rs4242182(G;G) |
| Reference | Rs4242182(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Craniosynostosis Enlarged parietal foramina |
| Variation | info |
| Gene | MSX2 |
| CLNDBN | not specified Craniosynostosis Enlarged parietal foramina |
| Reversed | 0 |
| HGVS | NC_000005.9:g.174156168T>C |
| CLNSRC | |
| CLNACC | RCV000246108.1, RCV000270658.1, RCV000325806.1, |
[PMID 12774039] Clinical and molecular analysis of nine families with Adams-Oliver syndrome.
