Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
G 0.900 CausalMutation CLINVAR

dbSNP: rs121913116
rs121913116
T 0.700 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

dbSNP: rs121913105
rs121913105
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
G 0.700 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
A 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
G 0.700 CausalMutation CLINVAR