Gene: FGFR3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
FGFR3
T 0.840 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
C 0.840 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
T 0.830 CausalMutation CLINVAR

dbSNP: rs121913485
rs121913485
FGFR3
G 0.820 CausalMutation CLINVAR

dbSNP: rs121913479
rs121913479
FGFR3
T 0.810 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
G 0.810 CausalMutation CLINVAR

dbSNP: rs121913484
rs121913484
FGFR3
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913101
rs121913101
FGFR3
G 0.720 CausalMutation CLINVAR

dbSNP: rs121913101
rs121913101
FGFR3
A 0.720 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
A 0.720 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
G 0.710 CausalMutation CLINVAR

dbSNP: rs121913103
rs121913103
FGFR3
G 0.700 CausalMutation CLINVAR The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. 17509076

2007
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: rs121913103
rs121913103
FGFR3
G 0.700 CausalMutation CLINVAR Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778

1995
dbSNP: rs121913103
rs121913103
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR