rs75790268
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.6 | Achondroplasia/dwarfism |
| (C;C) | 0 | common in clinvar |
| Make rs75790268(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 4 |
| Position | 1804377 |
| Gene | FGFR3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75790268 |
| dbSNP (classic) | rs75790268 |
| ClinGen | rs75790268 |
| ebi | rs75790268 |
| HLI | rs75790268 |
| Exac | rs75790268 |
| Gnomad | rs75790268 |
| Varsome | rs75790268 |
| LitVar | rs75790268 |
| Map | rs75790268 |
| PheGenI | rs75790268 |
| Biobank | rs75790268 |
| 1000 genomes | rs75790268 |
| hgdp | rs75790268 |
| ensembl | rs75790268 |
| geneview | rs75790268 |
| scholar | rs75790268 |
| rs75790268 | |
| pharmgkb | rs75790268 |
| gwascentral | rs75790268 |
| openSNP | rs75790268 |
| 23andMe | rs75790268 |
| SNPshot | rs75790268 |
| SNPdbe | rs75790268 |
| MSV3d | rs75790268 |
| GWAS Ctlg | rs75790268 |
| Merged from | Rs121913097 |
| Max Magnitude | 6.6 |
rs75790268, also known as Gly375Cys or G375C, is a mutation in the FGFR3 gene on chromosome 4.
Acting in an autosomal dominant manner, the rs75790268(A) allele, in dbSNP orientation, is considered to cause achondroplasia; see also OMIM 134934.0003
Note that 23andMe refers to this SNP as i5053815, i5001280 and i6010281.
FTDNA & MyHeritage name: VG04S25864
| ClinVar | |
|---|---|
| Risk | rs75790268(A;A) |
| Alt | rs75790268(A;A) |
| Reference | Rs75790268(C;C) |
| Significance | Pathogenic |
| Disease | Achondroplasia |
| Variation | info |
| Gene | FGFR3 |
| CLNDBN | Achondroplasia |
| Reversed | 1 |
| HGVS | NC_000004.11:g.1806104G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017727.28, |
