Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78311289
rs78311289
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0026707
Disease:
Mucopolysaccharidosis IV
0.010 GeneticVariation BEFREE Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903 2007