Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1253103806
rs1253103806
IGF1R
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 GeneticVariation BEFREE Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects. 22130793

2012