Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554570706
rs1554570706
FGFR1
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		A 0.700 GeneticVariation CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744

2017
dbSNP: rs1554570706
rs1554570706
FGFR1
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		A 0.700 GeneticVariation CLINVAR Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984

2006