Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		G 0.900 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121913116
rs121913116
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		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: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		G 0.700 CausalMutation CLINVAR