rs78311289, FGFR3

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
0.010 GeneticVariation BEFREE One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia. 11314002 2001