Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205866
rs786205866
0.010 GeneticVariation BEFREE We described a new case, a boy with severe intellectual disability with absent speech, autistic spectrum disorder, mild dysmorphic facial features, failure to thrive and epilepsy associated to a de novo heterozygous missense mutation in EEF1A2 (c.364G>A; p.Glu122Lys) identified by next generation sequencing; it was already reported in other studies. 31477274

2020

dbSNP: rs1253103806
rs1253103806
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

dbSNP: rs142920240
rs142920240
0.010 GeneticVariation BEFREE Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? 22274833

2012

dbSNP: rs77932196
rs77932196
0.010 GeneticVariation BEFREE Persisting respiratory symptoms and failure to thrive prompted cystic fibrosis diagnostics, which showed the lack of wild-type signal for the mutation R347P suggesting a homozygous deletion or an alteration different from the known mutation at this position. 22274833

2012

dbSNP: rs1218653273
rs1218653273
0.010 GeneticVariation BEFREE Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory. 17785701

2007

dbSNP: rs137853220
rs137853220
0.010 GeneticVariation BEFREE Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory. 17785701

2007

dbSNP: rs557914261
rs557914261
0.010 GeneticVariation BEFREE Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory. 17785701

2007

dbSNP: rs6190
rs6190
0.010 GeneticVariation BEFREE The 23K variant of the R23K polymorphism in the glucocorticoid receptor gene protects against postnatal growth failure and insulin resistance after preterm birth. 17848410

2007

dbSNP: rs75961395
rs75961395
0.010 GeneticVariation BEFREE Comparison of 55 G85E patients (with second mutation known and not classified as mild) with PS controls (n=44) showed that the G85E patients had a significantly higher sweat chloride, more often failure to thrive at diagnosis, higher prevalence of PI, worse current weight for height, higher prevalence of chronic P. aeruginosa colonisation and liver cirrhosis. 15176679

2004

dbSNP: rs104893755
rs104893755
0.010 GeneticVariation BEFREE A previously described heterozygous Arg271Trp mutation in exon 6 of the POU1F1 gene was identified in a female infant who presented with growth failure and was diagnosed with TSH then GH deficiencies. 12780757

2003