Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030773
rs5030773
LHB ; RUVBL2
C 0.800 CausalMutation CLINVAR

dbSNP: rs5030773
rs5030773
LHB ; RUVBL2
0.800 GeneticVariation UNIPROT

dbSNP: rs121912517
rs121912517
LHB
T 0.700 CausalMutation CLINVAR

dbSNP: rs769066903
rs769066903
LHB
T 0.700 CausalMutation CLINVAR

dbSNP: rs786204822
rs786204822
LHB
A 0.700 CausalMutation CLINVAR

dbSNP: rs786204822
rs786204822
LHB
G 0.700 CausalMutation CLINVAR

dbSNP: rs786204823
rs786204823
LHB
T 0.700 CausalMutation CLINVAR

dbSNP: rs104893836
rs104893836
GNRHR ; UBA6-AS1
0.010 GeneticVariation BEFREE Herein, we describe a 26-yr-old male with a mild phenotypic form of IHH, the fertile eunuch syndrome (IHH in the presence of normal testicular size and some degree of spermatogenesis), associated with a homozygous mutation (Gln106Arg) in the GnRH-R. 11397842

2001