Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918117
rs121918117
GHRHR
0.020 GeneticVariation BEFREE Twenty one of the 23 FIGHD had homozygous GHRHR(E72X) mutation and four with IGHD had heterozygous GHRHR(E72X) mutation.IGF1 and IGFBP3 were low. 23436191

2013
dbSNP: rs121918117
rs121918117
GHRHR
0.020 GeneticVariation BEFREE The GHRH-R gene E72X mutation was found in 71% of this series, in 90% of FIGHD, 36% of NFIGHD, and in 78% with phenotype IB. 16355809

2005