rs12822, BRD2

N. diseases: 1
Disease: Achondroplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.010 GeneticVariation BEFREE We describe a Klinefelter patient (non-mosaic 47,XXY karyotype) who was heterozygous for the classical 1138G>A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which is a gain-of-function mutation resulting in achondroplasia. 17554105 2007