Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1318358361
rs1318358361
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 GeneticVariation BEFREE Taken together, these results indicate that the P250R FGFR3 mutation is mostly familial and is associated with a more severe phenotype in females than in males. 9950359

1999