rs1554927408, FGFR2

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
0.700 CausalMutation CLINVAR
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
0.700 CausalMutation CLINVAR
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
0.010 GeneticVariation BEFREE A similar paralogous missense mutation in the transmembrane domain of FGFR3 (p.Gly380Arg) has been reported in keratinocytic epidermal naevi. 27095246 2017