rs121918508, FGFR2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. 18056630 2007
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.800 GeneticVariation UNIPROT Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.800 CausalMutation CLINVAR
Hypospadias, perineal
CUI: C0452148
Disease: Hypospadias, perineal
0.010 GeneticVariation BEFREE The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias. 30550360 2019
Hypospadias
CUI: C0848558
Disease: Hypospadias
0.010 GeneticVariation BEFREE The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias. 30550360 2019
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
0.010 GeneticVariation BEFREE The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias. 30550360 2019