Gene: GNRHR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
0.010 GeneticVariation BEFREE One boy with CDGP was heterozygous for the p.Q106R variant, which was not considered to be pathogenic. 25016926

2014
dbSNP: rs104893837
rs104893837
GNRHR ; UBA6-AS1
0.010 GeneticVariation BEFREE A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 16968799

2006