Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913485
rs121913485
FGFR3
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.010 GeneticVariation BEFREE A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. 18987480

2008