rs28931614
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.6 | Achondroplasia/dwarfism |
| (C;G) | 6.6 | Achondroplasia/dwarfism |
| (G;G) | 0 | common in clinvar |
| Make rs28931614(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 1804392 |
| Gene | FGFR3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28931614 |
| dbSNP (classic) | rs28931614 |
| ClinGen | rs28931614 |
| ebi | rs28931614 |
| HLI | rs28931614 |
| Exac | rs28931614 |
| Gnomad | rs28931614 |
| Varsome | rs28931614 |
| LitVar | rs28931614 |
| Map | rs28931614 |
| PheGenI | rs28931614 |
| Biobank | rs28931614 |
| 1000 genomes | rs28931614 |
| hgdp | rs28931614 |
| ensembl | rs28931614 |
| geneview | rs28931614 |
| scholar | rs28931614 |
| rs28931614 | |
| pharmgkb | rs28931614 |
| gwascentral | rs28931614 |
| openSNP | rs28931614 |
| 23andMe | rs28931614 |
| SNPshot | rs28931614 |
| SNPdbe | rs28931614 |
| MSV3d | rs28931614 |
| GWAS Ctlg | rs28931614 |
| Max Magnitude | 6.6 |
rs28931614, also known as G380R, Gly380Arg, and c.1138G>A, is a SNP in the fibroblast growth factor receptor 3 FGFR3 gene on chromosome 4. As an autosomal dominant mutation, the rs28931614(A) allele causes achondroplasia, a form of dwarfism.
A more rare change at this SNP, c.1138G>C (rather than G>A), also leads to achondroplasia; it is referred to as i6010295 by 23andMe.
| ClinVar | |
|---|---|
| Risk | rs28931614(A;A) rs28931614(C;C) |
| Alt | rs28931614(A;A) rs28931614(C;C) |
| Reference | Rs28931614(G;G) |
| Significance | Pathogenic |
| Disease | Achondroplasia Epidermal nevus not provided |
| Variation | info |
| Gene | FGFR3 |
| CLNDBN | Achondroplasia Epidermal nevus not provided |
| Reversed | 0 |
| HGVS | NC_000004.11:g.1806119G>A; NC_000004.11:g.1806119G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017724.24, RCV000017763.28, RCV000029207.5, RCV000255750.1, RCV000017725.28, |
