Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
A 0.700 CausalMutation CLINVAR

dbSNP: rs765379963
rs765379963
TMCO1
A 0.700 CausalMutation CLINVAR

dbSNP: rs755001161
rs755001161
FGFR2
0.010 GeneticVariation BEFREE We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332T>C, p.M111T) in a patient with esophageal atresia and hemivertebrae. 24819706

2014