Gene: FGFR3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
FGFR3
C 0.900 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
A 0.900 CausalMutation CLINVAR

dbSNP: rs75790268
rs75790268
FGFR3
T 0.850 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
C 0.800 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
G 0.750 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
A 0.750 CausalMutation CLINVAR

dbSNP: rs121913116
rs121913116
FGFR3
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: rs121913114
rs121913114
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR