Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		G 0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
dbSNP: rs28933068
rs28933068
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		C 0.780 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		A 0.780 CausalMutation CLINVAR

dbSNP: rs80053154
rs80053154
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		G 0.730 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		C 0.720 CausalMutation CLINVAR

dbSNP: rs121913115
rs121913115
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		G 0.710 CausalMutation CLINVAR

dbSNP: rs77722678
rs77722678
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		C 0.710 CausalMutation CLINVAR

dbSNP: rs78311289
rs78311289
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		C 0.710 CausalMutation CLINVAR

dbSNP: rs121913114
rs121913114
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913116
rs121913116
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		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: rs121913482
rs121913482
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs28928868
rs28928868
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs28928868
rs28928868
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs587778769
rs587778769
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778773
rs587778773
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778775
rs587778775
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778776
rs587778776
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587778801
rs587778801
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778811
rs587778811
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778816
rs587778816
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs587778817
rs587778817
FGFR3
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		T 0.700 CausalMutation CLINVAR