Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042254
rs886042254
FGFR1
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.010 GeneticVariation BEFREE Two rare heterozygous variants (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln)) in SEMA7A were found in one male nHH patient with a previously identified KISS1R nonsense variant and one male KS patient with a previously identified mutation in KAL1, respectively. 24522099

2014