Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939693
rs28939693
0.700 GeneticVariation UNIPROT Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 15221788

2004

dbSNP: rs28939693
rs28939693
0.700 GeneticVariation UNIPROT Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. 10835638

2000