Gene: FGFR1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs515726224
rs515726224
FGFR1
T 0.700 CausalMutation CLINVAR Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 24204987

2013
dbSNP: rs121909628
rs121909628
FGFR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121909641
rs121909641
FGFR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs727505369
rs727505369
FGFR1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs727505370
rs727505370
FGFR1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs727505371
rs727505371
FGFR1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727505373
rs727505373
FGFR1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs727505376
rs727505376
FGFR1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727505377
rs727505377
FGFR1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793123
rs1064793123
FGFR1
0.010 GeneticVariation BEFREE Six novel mutations (p.154_158del, p.E496Rfs*12, p.W190X, p.S134D, p.W10X, and c.1552 + 3insT) in FGFR1, two novel mutations (p.E176K and p.R184C) in FGF8, three novel mutations (p.48_52del, p.P120L, and p.K191R) in FGF17, and five reported mutations (p.W289X, p.G237S, p.V102I, p.R250Q, and p.T340M) in FGFR1 were identified in 18 IHH patients. 31748124

2020
dbSNP: rs121909640
rs121909640
FGFR1
0.010 GeneticVariation BEFREE Interestingly, the G48S mutation was identified in a normosmic IHH patient. 16882753

2006
dbSNP: rs781328162
rs781328162
FGFR1
0.010 GeneticVariation BEFREE Eight novel heterozygous FGFR1 mutations (G48S, L245P, R250W, A343V, P366L, K618fsX654, P722S, and V795I) were identified in nine of 80 patients with IHH. 16882753

2006