rs199979628, SEMA3A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
0.700 GeneticVariation UNIPROT
Kallmann Syndrome
CUI: C0162809
Disease: Kallmann Syndrome
0.010 GeneticVariation BEFREE By analyzing protein expression and processing, we did not observe any differences of the p.I668V variant compared with wild-type SEMA3A, while a pathogenic SEMA3A variant p.R66W recently described in a patient with Kallmann syndrome did affect protein secretion. 29432577 2018