IGF1R, insulin like growth factor 1 receptor, 3480

N. diseases: 422; N. variants: 24
Disease: Dwarfism ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33958176
rs33958176
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0013336
Disease:
Dwarfism 		0.010 GeneticVariation BEFREE A 13-yr-old girl with short stature was studied for functional analysis of the R481Q mutation in the IGF-IR. 17264177 2007