rs28931614, FGFR3

N. diseases: 21
Disease: Micromelia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Micromelia
CUI: C0025995
Disease: Micromelia
0.010 GeneticVariation BEFREE 2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs. 19789973 2009