rs4647924, FGFR3

N. diseases: 49
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
0.010 GeneticVariation BEFREE The syndrome is defined molecularly by a unique point mutation c.749C > G in exon 7 of the FGFR3 gene which results to an amino acid substitution p.Pro250Arg of the protein product. 24168007 2014