Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78311289
rs78311289
FGFR3
0.020 GeneticVariation BEFREE Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903

2007
dbSNP: rs78311289
rs78311289
FGFR3
0.020 GeneticVariation BEFREE One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia. 11314002

2001